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Items: 1 to 50 of 160

1.

Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.

Burrage LC, Reynolds JJ, Baratang NV, Phillips JB, Wegner J, McFarquhar A, Higgs MR, Christiansen AE, Lanza DG, Seavitt JR, Jain M, Li X, Parry DA, Raman V, Chitayat D, Chinn IK, Bertuch AA, Karaviti L, Schlesinger AE, Earl D, Bamshad M, Savarirayan R, Doddapaneni H, Muzny D, Jhangiani SN, Eng CM, Gibbs RA, Bi W, Emrick L, Rosenfeld JA, Postlethwait J, Westerfield M, Dickinson ME, Beaudet AL, Ranza E, Huber C, Cormier-Daire V, Shen W, Mao R, Heaney JD, Orange JS; University of Washington Center for Mendelian Genomics; Undiagnosed Diseases Network, Bertola D, Yamamoto GL, Baratela WAR, Butler MG, Ali A, Adeli M, Cohn DH, Krakow D, Jackson AP, Lees M, Offiah AC, Carlston CM, Carey JC, Stewart GS, Bacino CA, Campeau PM, Lee B.

Am J Hum Genet. 2019 Mar 7;104(3):422-438. doi: 10.1016/j.ajhg.2019.01.007. Epub 2019 Feb 14.

2.

Diagnostic and service impact of genomic testing technologies in a neonatal intensive care unit.

Tan NB, Tan TY, Martyn MM, Savarirayan R, Amor DJ, Moody A, White SM, Stark Z.

J Paediatr Child Health. 2019 Feb 12. doi: 10.1111/jpc.14398. [Epub ahead of print]

PMID:
30756437
3.

Best practice guidelines regarding diagnosis and management of patients with type II collagen disorders.

Savarirayan R, Bompadre V, Bober MB, Cho TJ, Goldberg MJ, Hoover-Fong J, Irving M, Kamps SE, Mackenzie WG, Raggio C, Spencer SS, White KK; Skeletal Dysplasia Management Consortium.

Genet Med. 2019 Jan 30. doi: 10.1038/s41436-019-0446-9. [Epub ahead of print]

PMID:
30696995
4.

A Roberts Syndrome Individual With Differential Genotoxin Sensitivity and a DNA Damage Response Defect.

McKay MJ, Craig J, Kalitsis P, Kozlov S, Verschoor S, Chen P, Lobachevsky P, Vasireddy R, Yan Y, Ryan J, McGillivray G, Savarirayan R, Lavin MF, Ramsay RG, Xu H.

Int J Radiat Oncol Biol Phys. 2019 Apr 1;103(5):1194-1202. doi: 10.1016/j.ijrobp.2018.11.047. Epub 2018 Nov 30.

PMID:
30508616
5.

Best practice guidelines regarding prenatal evaluation and delivery of patients with skeletal dysplasia.

Savarirayan R, Rossiter JP, Hoover-Fong JE, Irving M, Bompadre V, Goldberg MJ, Bober MB, Cho TJ, Kamps SE, Mackenzie WG, Raggio C, Spencer SS, White KK; Skeletal Dysplasia Management Consortium.

Am J Obstet Gynecol. 2018 Dec;219(6):545-562. doi: 10.1016/j.ajog.2018.07.017. Epub 2018 Jul 23. Review.

PMID:
30048634
6.

Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia.

Michot C, Le Goff C, Blair E, Blanchet P, Capri Y, Gilbert-Dussardier B, Goldenberg A, Henderson A, Isidor B, Kayserili H, Kinning E, Le Merrer M, Lyonnet S, Odent S, Simsek-Kiper PO, Quelin C, Savarirayan R, Simon M, Splitt M, Verhagen JMA, Verloes A, Munnich A, Baujat G, Cormier-Daire V.

Eur J Hum Genet. 2018 Nov;26(11):1611-1622. doi: 10.1038/s41431-018-0135-1. Epub 2018 Jul 13.

PMID:
30006632
7.

Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort.

Meester JAN, Sukalo M, Schröder KC, Schanze D, Baynam G, Borck G, Bramswig NC, Duman D, Gilbert-Dussardier B, Holder-Espinasse M, Itin P, Johnson DS, Joss S, Koillinen H, McKenzie F, Morton J, Nelle H, Reardon W, Roll C, Salih MA, Savarirayan R, Scurr I, Splitt M, Thompson E, Titheradge H, Travers CP, Van Maldergem L, Whiteford M, Wieczorek D, Vandeweyer G, Trembath R, Van Laer L, Loeys BL, Zenker M, Southgate L, Wuyts W.

Hum Mutat. 2018 Sep;39(9):1246-1261. doi: 10.1002/humu.23567. Epub 2018 Jul 4.

8.

A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations.

Lee E, Le T, Zhu Y, Elakis G, Turner A, Lo W, Venselaar H, Verrenkamp CA, Snow N, Mowat D, Kirk EP, Sachdev R, Smith J, Brown NJ, Wallis M, Barnett C, McKenzie F, Freckmann ML, Collins F, Chopra M, Gregersen N, Hayes I, Rajagopalan S, Tan TY, Stark Z, Savarirayan R, Yeung A, Adès L, Gattas M, Gibson K, Gabbett M, Amor DJ, Lattanzi W, Boyd S, Haan E, Gianoutsos M, Cox TC, Buckley MF, Roscioli T.

Genet Med. 2018 Sep;20(9):1061-1068. doi: 10.1038/gim.2017.214. Epub 2017 Dec 7.

PMID:
29215649
9.

Indigenous Genetics and Rare Diseases: Harmony, Diversity and Equity.

Baynam G, Molster C, Bauskis A, Kowal E, Savarirayan R, Kelaher M, Easteal S, Massey L, Garvey G, Goldblatt J, Pachter N, Weeramanthri TS, Dawkins HJS.

Adv Exp Med Biol. 2017;1031:511-520. doi: 10.1007/978-3-319-67144-4_27. Review.

PMID:
29214589
10.

Temporal Lobe Malformations in Achondroplasia: Expanding the Brain Imaging Phenotype Associated with FGFR3-Related Skeletal Dysplasias.

Manikkam SA, Chetcuti K, Howell KB, Savarirayan R, Fink AM, Mandelstam SA.

AJNR Am J Neuroradiol. 2018 Feb;39(2):380-384. doi: 10.3174/ajnr.A5468. Epub 2017 Nov 23.

11.

Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing.

Stals KL, Wakeling M, Baptista J, Caswell R, Parrish A, Rankin J, Tysoe C, Jones G, Gunning AC, Lango Allen H, Bradley L, Brady AF, Carley H, Carmichael J, Castle B, Cilliers D, Cox H, Deshpande C, Dixit A, Eason J, Elmslie F, Fry AE, Fryer A, Holder M, Homfray T, Kivuva E, McKay V, Newbury-Ecob R, Parker M, Savarirayan R, Searle C, Shannon N, Shears D, Smithson S, Thomas E, Turnpenny PD, Varghese V, Vasudevan P, Wakeling E, Baple EL, Ellard S.

Prenat Diagn. 2018 Jan;38(1):33-43. doi: 10.1002/pd.5175. Epub 2017 Dec 3.

12.

Successful Use of Enzyme Replacement Therapy in Infantile Hypophosphatasia.

Simm PJ, Savarirayan R.

J Paediatr Child Health. 2017 Sep;53(9):925-926. doi: 10.1111/jpc.13638. No abstract available.

PMID:
28868782
13.

Monoallelic and biallelic CREB3L1 variant causes mild and severe osteogenesis imperfecta, respectively.

Keller RB, Tran TT, Pyott SM, Pepin MG, Savarirayan R, McGillivray G, Nickerson DA, Bamshad MJ, Byers PH.

Genet Med. 2018 Apr;20(4):411-419. doi: 10.1038/gim.2017.115. Epub 2017 Aug 17.

14.

Best practices in peri-operative management of patients with skeletal dysplasias.

White KK, Bompadre V, Goldberg MJ, Bober MB, Cho TJ, Hoover-Fong JE, Irving M, Mackenzie WG, Kamps SE, Raggio C, Redding GJ, Spencer SS, Savarirayan R, Theroux MC; Skeletal Dysplasia Management Consortium.

Am J Med Genet A. 2017 Oct;173(10):2584-2595. doi: 10.1002/ajmg.a.38357. Epub 2017 Aug 1.

PMID:
28763154
15.

Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions.

Tan TY, Dillon OJ, Stark Z, Schofield D, Alam K, Shrestha R, Chong B, Phelan D, Brett GR, Creed E, Jarmolowicz A, Yap P, Walsh M, Downie L, Amor DJ, Savarirayan R, McGillivray G, Yeung A, Peters H, Robertson SJ, Robinson AJ, Macciocca I, Sadedin S, Bell K, Oshlack A, Georgeson P, Thorne N, Gaff C, White SM.

JAMA Pediatr. 2017 Sep 1;171(9):855-862. doi: 10.1001/jamapediatrics.2017.1755.

16.

Concomitant extraspinal hyperostosis and osteoporosis in a patient with congenital ichthyosis.

Torkamani N, Phal P, Savarirayan R, Simm P, Varigos G, Wark J.

Clin Cases Miner Bone Metab. 2016 May-Aug;13(2):157-159. Epub 2016 Oct 5.

17.

A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

Stark Z, Tan TY, Chong B, Brett GR, Yap P, Walsh M, Yeung A, Peters H, Mordaunt D, Cowie S, Amor DJ, Savarirayan R, McGillivray G, Downie L, Ekert PG, Theda C, James PA, Yaplito-Lee J, Ryan MM, Leventer RJ, Creed E, Macciocca I, Bell KM, Oshlack A, Sadedin S, Georgeson P, Anderson C, Thorne N, Melbourne Genomics Health Alliance, Gaff C, White SM.

Genet Med. 2016 Nov;18(11):1090-1096. doi: 10.1038/gim.2016.1. Epub 2016 Mar 3.

PMID:
26938784
18.

Recurrent chronic histiocytic intervillositis with intrauterine growth restriction, osteopenia, and fractures.

Crawford A, Moore L, Bennett G, Savarirayan R, Manton N, Khong Y, Barnett CP, Haan E.

Am J Med Genet A. 2016 Nov;170(11):2960-2964. doi: 10.1002/ajmg.a.37856. Epub 2016 Aug 2.

PMID:
27481052
19.

Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis.

Fenwick AL, Kliszczak M, Cooper F, Murray J, Sanchez-Pulido L, Twigg SR, Goriely A, McGowan SJ, Miller KA, Taylor IB, Logan C; WGS500 Consortium, Bozdogan S, Danda S, Dixon J, Elsayed SM, Elsobky E, Gardham A, Hoffer MJ, Koopmans M, McDonald-McGinn DM, Santen GW, Savarirayan R, de Silva D, Vanakker O, Wall SA, Wilson LC, Yuregir OO, Zackai EH, Ponting CP, Jackson AP, Wilkie AO, Niedzwiedz W, Bicknell LS.

Am J Hum Genet. 2016 Jul 7;99(1):125-38. doi: 10.1016/j.ajhg.2016.05.019. Epub 2016 Jun 30.

20.

Emerging targeted drug therapies in skeletal dysplasias.

Yap P, Savarirayan R.

Am J Med Genet A. 2016 Oct;170(10):2596-604. doi: 10.1002/ajmg.a.37734. Epub 2016 May 7. Review.

PMID:
27155200
21.

Ethical Considerations for the Return of Incidental Findings in Ophthalmic Genomic Research.

Souzeau E, Burdon KP, Mackey DA, Hewitt AW, Savarirayan R, Otlowski M, Craig JE.

Transl Vis Sci Technol. 2016 Feb 9;5(1):3. eCollection 2016 Feb.

22.
23.

Pseudodiastrophic dysplasia: Two cases delineating and expanding the pre and postnatal phenotype.

Yap P, Liebelt JE, Amor DJ, Moore L, Savarirayan R.

Am J Med Genet A. 2016 May;170A(5):1363-6. doi: 10.1002/ajmg.a.37548. Epub 2016 Jan 11. No abstract available.

PMID:
26754439
24.

Response: "Best practices in the evaluation and treatment of foramen magnum stenosis in achondroplasia during infancy" and "Is there a correlation between sleep disordered breathing and foramen magnum stenosis in children with achondroplasia?".

White KK, Savarirayan R, Goldberg MJ, MacKenzie W, Bompadre V, Bober MB, Cho TJ, Hoover-Fong J, Parnell SE, Raggio C, Spencer SA, Campbell JW, Rapoport DM, Kifle Y, Blackledge M.

Am J Med Genet A. 2016 Apr;170A(4):1101-3. doi: 10.1002/ajmg.a.37546. Epub 2016 Jan 11. No abstract available.

PMID:
26754314
25.

Best practices in the evaluation and treatment of foramen magnum stenosis in achondroplasia during infancy.

White KK, Bompadre V, Goldberg MJ, Bober MB, Campbell JW, Cho TJ, Hoover-Fong J, Mackenzie W, Parnell SE, Raggio C, Rapoport DM, Spencer SA, Savarirayan R.

Am J Med Genet A. 2016 Jan;170A(1):42-51. doi: 10.1002/ajmg.a.37394. Epub 2015 Sep 23.

PMID:
26394886
26.

Nosology and classification of genetic skeletal disorders: 2015 revision.

Bonafe L, Cormier-Daire V, Hall C, Lachman R, Mortier G, Mundlos S, Nishimura G, Sangiorgi L, Savarirayan R, Sillence D, Spranger J, Superti-Furga A, Warman M, Unger S.

Am J Med Genet A. 2015 Dec;167A(12):2869-92. doi: 10.1002/ajmg.a.37365. Epub 2015 Sep 23.

PMID:
26394607
27.

Incidental diagnosis of HLRCC following investigation for Asperger Syndrome: actionable and actioned.

Duong BT, Savarirayan R, Winship I.

Fam Cancer. 2016 Jan;15(1):25-9. doi: 10.1007/s10689-015-9829-5.

PMID:
26275867
28.

Terminal osseous dysplasia with pigmentary defects; Case and brief review of filamin A-related disorders.

Bhabha FK, Walsh M, Orchard D, Savarirayan R.

Australas J Dermatol. 2016 Nov;57(4):312-315. doi: 10.1111/ajd.12367. Epub 2015 Jun 9.

PMID:
26061098
29.

SNP microarray abnormalities in a cohort of 28 infants with congenital diaphragmatic hernia.

Stark Z, Behrsin J, Burgess T, Ritchie A, Yeung A, Tan TY, Brown NJ, Savarirayan R, Patel N.

Am J Med Genet A. 2015 Oct;167A(10):2319-26. doi: 10.1002/ajmg.a.37177. Epub 2015 Jun 8.

PMID:
26059276
30.

Microdeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan type.

Flöttmann R, Wagner J, Kobus K, Curry CJ, Savarirayan R, Nishimura G, Yasui N, Spranger J, Van Esch H, Lyons MJ, DuPont BR, Dwivedi A, Klopocki E, Horn D, Mundlos S, Spielmann M.

J Med Genet. 2015 Jul;52(7):476-83. doi: 10.1136/jmedgenet-2015-103108. Epub 2015 Jun 1.

PMID:
26032025
31.

Mutations in SEC24D, encoding a component of the COPII machinery, cause a syndromic form of osteogenesis imperfecta.

Garbes L, Kim K, Rieß A, Hoyer-Kuhn H, Beleggia F, Bevot A, Kim MJ, Huh YH, Kweon HS, Savarirayan R, Amor D, Kakadia PM, Lindig T, Kagan KO, Becker J, Boyadjiev SA, Wollnik B, Semler O, Bohlander SK, Kim J, Netzer C.

Am J Hum Genet. 2015 Mar 5;96(3):432-9. doi: 10.1016/j.ajhg.2015.01.002. Epub 2015 Feb 12.

32.

A mouse splice-site mutant and individuals with atypical chromosome 22q11.2 deletions demonstrate the crucial role for crkl in craniofacial and pharyngeal development.

Miller KA, Tan TY, Welfare MF, White SM, Stark Z, Savarirayan R, Burgess T, Heggie AA, Caruana G, Bertram JF, Bateman JF, Farlie PG.

Mol Syndromol. 2014 Dec;5(6):276-86. doi: 10.1159/000368865. Epub 2014 Nov 8.

33.

International guidelines for the management and treatment of Morquio A syndrome.

Hendriksz CJ, Berger KI, Giugliani R, Harmatz P, Kampmann C, Mackenzie WG, Raiman J, Villarreal MS, Savarirayan R.

Am J Med Genet A. 2015 Jan;167A(1):11-25. doi: 10.1002/ajmg.a.36833. Epub 2014 Oct 24. Review.

34.

Optimal management of complications associated with achondroplasia.

Ireland PJ, Pacey V, Zankl A, Edwards P, Johnston LM, Savarirayan R.

Appl Clin Genet. 2014 Jun 24;7:117-25. doi: 10.2147/TACG.S51485. eCollection 2014. Review.

35.

Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro-costo-mandibular syndrome.

Lynch DC, Revil T, Schwartzentruber J, Bhoj EJ, Innes AM, Lamont RE, Lemire EG, Chodirker BN, Taylor JP, Zackai EH, McLeod DR, Kirk EP, Hoover-Fong J, Fleming L, Savarirayan R; Care4Rare Canada, Majewski J, Jerome-Majewska LA, Parboosingh JS, Bernier FP.

Nat Commun. 2014 Jul 22;5:4483. doi: 10.1038/ncomms5483.

36.

Novel KDM6A (UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2).

Banka S, Lederer D, Benoit V, Jenkins E, Howard E, Bunstone S, Kerr B, McKee S, Lloyd IC, Shears D, Stewart H, White SM, Savarirayan R, Mancini GM, Beysen D, Cohn RD, Grisart B, Maystadt I, Donnai D.

Clin Genet. 2015 Mar;87(3):252-8. doi: 10.1111/cge.12363. Epub 2014 Mar 27.

PMID:
24527667
37.

The impact of participation in genetic research for families with cleft lip with and without cleft palate: a qualitative study.

Donoghue LJ, Sahhar MA, Savarirayan R, Raj S, Kilpatrick NM, Forrest LE.

J Community Genet. 2014 Jul;5(3):249-56. doi: 10.1007/s12687-014-0183-3. Epub 2014 Feb 6.

38.

Characterization of core clinical phenotypes associated with recurrent proximal 15q25.2 microdeletions.

Burgess T, Brown NJ, Stark Z, Bruno DL, Oertel R, Chong B, Calabro V, Kornberg A, Sanderson C, Kelly J, Howell KB, Savarirayan R, Hinds R, Greenway A, Slater HR, White SM.

Am J Med Genet A. 2014 Jan;164A(1):77-86. doi: 10.1002/ajmg.a.36203. Epub 2013 Nov 21.

PMID:
24352913
39.

The collagenopathies: review of clinical phenotypes and molecular correlations.

Jobling R, D'Souza R, Baker N, Lara-Corrales I, Mendoza-Londono R, Dupuis L, Savarirayan R, Ala-Kokko L, Kannu P.

Curr Rheumatol Rep. 2014 Jan;16(1):394. doi: 10.1007/s11926-013-0394-3. Review.

PMID:
24338780
40.

Expanding the cleft phenotype: the dental characteristics of unaffected parents of Australian children with non-syndromic cleft lip and palate.

Aspinall A, Raj S, Jugessur A, Marazita M, Savarirayan R, Kilpatrick N.

Int J Paediatr Dent. 2014 Jul;24(4):286-92. doi: 10.1111/ipd.12072. Epub 2013 Nov 17.

41.

Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.

Roscioli T, Elakis G, Cox TC, Moon DJ, Venselaar H, Turner AM, Le T, Hackett E, Haan E, Colley A, Mowat D, Worgan L, Kirk EP, Sachdev R, Thompson E, Gabbett M, McGaughran J, Gibson K, Gattas M, Freckmann ML, Dixon J, Hoefsloot L, Field M, Hackett A, Kamien B, Edwards M, Adès LC, Collins FA, Wilson MJ, Savarirayan R, Tan TY, Amor DJ, McGillivray G, White SM, Glass IA, David DJ, Anderson PJ, Gianoutsos M, Buckley MF.

Am J Med Genet C Semin Med Genet. 2013 Nov;163C(4):259-70. doi: 10.1002/ajmg.c.31378. Epub 2013 Oct 11.

PMID:
24127277
42.

Cauli: a mouse strain with an Ift140 mutation that results in a skeletal ciliopathy modelling Jeune syndrome.

Miller KA, Ah-Cann CJ, Welfare MF, Tan TY, Pope K, Caruana G, Freckmann ML, Savarirayan R, Bertram JF, Dobbie MS, Bateman JF, Farlie PG.

PLoS Genet. 2013 Aug;9(8):e1003746. doi: 10.1371/journal.pgen.1003746. Epub 2013 Aug 29.

43.

The effect of height, weight and head circumference on gross motor development in achondroplasia.

Ireland PJ, Ware RS, Donaghey S, McGill J, Zankl A, Pacey V, Ault J, Savarirayan R, Sillence D, Thompson E, Townshend S, Johnston LM.

J Paediatr Child Health. 2013 Feb;49(2):E122-7. doi: 10.1111/jpc.12078. Epub 2013 Jan 22.

PMID:
23336715
44.

Pregnancy in a woman with proportionate (primordial) dwarfism: a case report and literature review.

Vance CE, Desmond M, Robinson A, Johns J, Zacharin M, Savarirayan R, König K, Warrillow S, Walker SP.

Obstet Med. 2012 Sep;5(3):124-9. doi: 10.1258/om.2011.110067. Epub 2012 Apr 25.

45.

TRPV4-associated skeletal dysplasias.

Nishimura G, Lausch E, Savarirayan R, Shiba M, Spranger J, Zabel B, Ikegawa S, Superti-Furga A, Unger S.

Am J Med Genet C Semin Med Genet. 2012 Aug 15;160C(3):190-204. doi: 10.1002/ajmg.c.31335. Epub 2012 Jul 12. Review.

PMID:
22791502
46.

Development in children with achondroplasia: a prospective clinical cohort study.

Ireland PJ, Donaghey S, McGill J, Zankl A, Ware RS, Pacey V, Ault J, Savarirayan R, Sillence D, Thompson E, Townshend S, Johnston LM.

Dev Med Child Neurol. 2012 Jun;54(6):532-7. doi: 10.1111/j.1469-8749.2012.04234.x. Epub 2012 Mar 12.

47.

Neurodevelopmental functioning of infants with untreated single-suture craniosynostosis during early infancy.

Da Costa AC, Anderson VA, Savarirayan R, Wrennall JA, Chong DK, Holmes AD, Greensmith AL, Meara JG.

Childs Nerv Syst. 2012 Jun;28(6):869-77. doi: 10.1007/s00381-011-1660-1. Epub 2012 Jan 14.

PMID:
22246335
48.

Medical management of children with achondroplasia: evaluation of an Australasian cohort aged 0-5 years.

Ireland PJ, Johnson S, Donaghey S, Johnston L, Ware RS, Zankl A, Pacey V, Ault J, Savarirayan R, Sillence D, Thompson E, Townshend S, McGill J.

J Paediatr Child Health. 2012 May;48(5):443-9. doi: 10.1111/j.1440-1754.2011.02255.x. Epub 2011 Nov 23.

PMID:
22112170
49.

The male phenotype in osteopathia striata congenita with cranial sclerosis.

Holman SK, Daniel P, Jenkins ZA, Herron RL, Morgan T, Savarirayan R, Chow CW, Bohring A, Mosel A, Lacombe D, Steiner B, Schmitt-Mechelke T, Schroter B, Raas-Rothschild A, Miñaur SG, Porteous M, Parker M, Quarrell O, Tapon D, Cormier-Daire V, Mansour S, Nash R, Bindoff LA, Fiskerstrand T, Robertson SP.

Am J Med Genet A. 2011 Oct;155A(10):2397-408.

PMID:
22043478
50.

Mutations in TRPV4 cause an inherited arthropathy of hands and feet.

Lamandé SR, Yuan Y, Gresshoff IL, Rowley L, Belluoccio D, Kaluarachchi K, Little CB, Botzenhart E, Zerres K, Amor DJ, Cole WG, Savarirayan R, McIntyre P, Bateman JF.

Nat Genet. 2011 Oct 2;43(11):1142-6. doi: 10.1038/ng.945.

PMID:
21964574

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