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Items: 1 to 50 of 70

1.

Cervical Spine Deformities in Children With Rhizomelic Chondrodysplasia Punctata.

Abousamra O, Kandula V, Duker AL, Rogers KJ, Bober MB, Mackenzie WG.

J Pediatr Orthop. 2019 Oct;39(9):e680-e686. doi: 10.1097/BPO.0000000000001014.

PMID:
31503224
2.

New insights into minor splicing-a transcriptomic analysis of cells derived from TALS patients.

Cologne A, Benoit-Pilven C, Besson A, Putoux A, Campan-Fournier A, Bober MB, De Die-Smulders CEM, Paulussen ADC, Pinson L, Toutain A, Roifman CM, Leutenegger AL, Mazoyer S, Edery P, Lacroix V.

RNA. 2019 Sep;25(9):1130-1149. doi: 10.1261/rna.071423.119. Epub 2019 Jun 7.

3.

Valgus Hip Osteotomy in Children With Spondyloepiphyseal Dysplasia Congenita: Midterm Results.

Bayhan IA, Abousamra O, Rogers KJ, Bober MB, Miller F, Mackenzie WG.

J Pediatr Orthop. 2019 Jul;39(6):282-288. doi: 10.1097/BPO.0000000000000945.

PMID:
31169747
4.

A Multicenter Observational Cohort Study to Evaluate the Effects of Bisphosphonate Exposure on Bone Mineral Density and Other Health Outcomes in Osteogenesis Imperfecta.

Bains JS, Carter EM, Citron KP, Boskey AL, Shapiro JR, Steiner RD, Smith PA, Bober MB, Hart T, Cuthbertson D, Krischer J, Byers PH, Pepin M, Durigova M, Glorieux FH, Rauch F, Sliepka JM, Sutton VR, Lee B; Members of the BBD Consortium, Nagamani SC, Raggio CL.

JBMR Plus. 2019 Jan 7;3(5):e10118. doi: 10.1002/jbm4.10118. eCollection 2019 May.

5.

Biallelic variants in DNA2 cause microcephalic primordial dwarfism.

Tarnauskaitė Ž, Bicknell LS, Marsh JA, Murray JE, Parry DA, Logan CV, Bober MB, de Silva DC, Duker AL, Sillence D, Wise C, Jackson AP, Murina O, Reijns MAM.

Hum Mutat. 2019 Aug;40(8):1063-1070. doi: 10.1002/humu.23776. Epub 2019 Jun 23.

PMID:
31045292
6.

Mobility in osteogenesis imperfecta: a multicenter North American study.

Kruger KM, Caudill A, Rodriguez Celin M, Nagamani SCS, Shapiro JR, Steiner RD, Bober MB, Hart T, Cuthbertson D, Krischer J, Byers PH, Durigova M, Glorieux FH, Rauch F, Sutton VR, Lee B, Rush ET, Smith PA, Harris GF.

Genet Med. 2019 Mar 28. doi: 10.1038/s41436-019-0491-4. [Epub ahead of print]

PMID:
30918359
7.

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 Sep;21(9):2070-2080. doi: 10.1038/s41436-019-0446-9. Epub 2019 Jan 30.

PMID:
30696995
8.

Prevalence of mental health conditions and pain in adults with skeletal dysplasia.

Jennings SE, Ditro CP, Bober MB, Mackenzie WG, Rogers KJ, Conway L, Duker AL.

Qual Life Res. 2019 Jun;28(6):1457-1464. doi: 10.1007/s11136-019-02102-2. Epub 2019 Jan 14.

PMID:
30637564
9.

GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome.

LaCroix AJ, Stabley D, Sahraoui R, Adam MP, Mehaffey M, Kernan K, Myers CT, Fagerstrom C, Anadiotis G, Akkari YM, Robbins KM, Gripp KW, Baratela WAR, Bober MB, Duker AL, Doherty D, Dempsey JC, Miller DG, Kircher M, Bamshad MJ, Nickerson DA; University of Washington Center for Mendelian Genomics, Mefford HC, Sol-Church K.

Am J Hum Genet. 2019 Jan 3;104(1):35-44. doi: 10.1016/j.ajhg.2018.11.005. Epub 2018 Dec 13.

10.

DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency.

Logan CV, Murray JE, Parry DA, Robertson A, Bellelli R, Tarnauskaitė Ž, Challis R, Cleal L, Borel V, Fluteau A, Santoyo-Lopez J; SGP Consortium, Aitman T, Barroso I, Basel D, Bicknell LS, Goel H, Hu H, Huff C, Hutchison M, Joyce C, Knox R, Lacroix AE, Langlois S, McCandless S, McCarrier J, Metcalfe KA, Morrissey R, Murphy N, Netchine I, O'Connell SM, Olney AH, Paria N, Rosenfeld JA, Sherlock M, Syverson E, White PC, Wise C, Yu Y, Zacharin M, Banerjee I, Reijns M, Bober MB, Semple RK, Boulton SJ, Rios JJ, Jackson AP.

Am J Hum Genet. 2018 Dec 6;103(6):1038-1044. doi: 10.1016/j.ajhg.2018.10.024. Epub 2018 Nov 29.

11.

PCNT point mutations and familial intracranial aneurysms.

Lorenzo-Betancor O, Blackburn PR, Edwards E, Vázquez-do-Campo R, Klee EW, Labbé C, Hodges K, Glover P, Sigafoos AN, Soto AI, Walton RL, Doxsey S, Bober MB, Jennings S, Clark KJ, Asmann Y, Miller D, Freeman WD, Meschia J, Ross OA.

Neurology. 2018 Dec 4;91(23):e2170-e2181. doi: 10.1212/WNL.0000000000006614. Epub 2018 Nov 9. Erratum in: Neurology. 2019 Jul 30;93(5):231.

PMID:
30413633
12.

A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation.

Ferreira CR, Xia ZJ, Clément A, Parry DA, Davids M, Taylan F, Sharma P, Turgeon CT, Blanco-Sánchez B, Ng BG, Logan CV, Wolfe LA, Solomon BD, Cho MT, Douglas G, Carvalho DR, Bratke H, Haug MG, Phillips JB, Wegner J, Tiemeyer M, Aoki K; Undiagnosed Diseases Network; Scottish Genome Partnership, Nordgren A, Hammarsjö A, Duker AL, Rohena L, Hove HB, Ek J, Adams D, Tifft CJ, Onyekweli T, Weixel T, Macnamara E, Radtke K, Powis Z, Earl D, Gabriel M, Russi AHS, Brick L, Kozenko M, Tham E, Raymond KM, Phillips JA 3rd, Tiller GE, Wilson WG, Hamid R, Malicdan MCV, Nishimura G, Grigelioniene G, Jackson A, Westerfield M, Bober MB, Gahl WA, Freeze HH.

Am J Hum Genet. 2018 Oct 4;103(4):553-567. doi: 10.1016/j.ajhg.2018.09.003.

13.

Multicenter study of mortality in achondroplasia.

Hashmi SS, Gamble C, Hoover-Fong J, Alade AY, Pauli RM, Modaff P, Carney M, Brown C, Bober MB, Hecht JT.

Am J Med Genet A. 2018 Nov;176(11):2359-2364. doi: 10.1002/ajmg.a.40528. Epub 2018 Oct 1.

PMID:
30276962
14.

A moderate form of osteogenesis imperfecta caused by compound heterozygous LEPRE1 mutations.

Santana A, Franzone JM, McGreal CM, Kruse RW, Bober MB.

Bone Rep. 2018 Sep 15;9:132-135. doi: 10.1016/j.bonr.2018.09.002. eCollection 2018 Dec.

15.

A multicenter study to evaluate pulmonary function in osteogenesis imperfecta.

Tam A, Chen S, Schauer E, Grafe I, Bandi V, Shapiro JR, Steiner RD, Smith PA, Bober MB, Hart T, Cuthbertson D, Krischer J, Mullins M, Byers PH, Sandhaus RA, Durigova M, Glorieux FH, Rauch F, Reid Sutton V, Lee B; Members of the Brittle Bone Disorders Consortium, Rush ET, Nagamani SCS.

Clin Genet. 2018 Dec;94(6):502-511. doi: 10.1111/cge.13440. Epub 2018 Sep 24.

PMID:
30152014
16.

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
17.

Growth characteristics in individuals with osteogenesis imperfecta in North America: results from a multicenter study.

Jain M, Tam A, Shapiro JR, Steiner RD, Smith PA, Bober MB, Hart T, Cuthbertson D, Krischer J, Mullins M, Bellur S, Byers PH, Pepin M, Durigova M, Glorieux FH, Rauch F, Lee B, Sutton VR; , Members of the Brittle Bone Disorders Consortium*,, Nagamani SCS.

Genet Med. 2019 Feb;21(2):275-283. doi: 10.1038/s41436-018-0045-1. Epub 2018 Jul 4.

18.

Aneurysmal bone cysts and pathologic fracture associated with supernumerary ring chromosome 6 in two unrelated patients.

Hurd LM, Thacker MM, Okenfuss E, Duker AL, Lou Y, Harty MP, Conard K, Lian JB, Bober MB.

Am J Med Genet A. 2017 Dec;173(12):3205-3210. doi: 10.1002/ajmg.a.38498. Epub 2017 Oct 28.

19.

Expected weight gain for children with microcephalic osteodysplastic primordial dwarfism type II.

Duker AL, Niiler T, Bober MB.

Am J Med Genet A. 2017 Nov;173(11):3067-3069. doi: 10.1002/ajmg.a.38467. Epub 2017 Sep 22. No abstract available.

PMID:
28940990
20.

Re-alignment and intramedullary rodding of the humerus and forearm in children with osteogenesis imperfecta: revision rate and effect on fracture rate.

Franzone JM, Bober MB, Rogers KJ, McGreal CM, Kruse RW.

J Child Orthop. 2017 Jun 1;11(3):185-190. doi: 10.1302/1863-2548.11.160214.

21.

Arthroscopic knee anatomy in young achondroplasia patients.

Del Pilar Duque Orozco M, Record NC, Rogers KJ, Bober MB, Mackenzie WG, Atanda A Jr.

J Child Orthop. 2017 Jun 1;11(3):169-174. doi: 10.1302/1863-2548.11.160168.

22.

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
23.

Erratum to: Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review.

Bober MB, Jackson AP.

Curr Osteoporos Rep. 2017 Aug;15(4):399. doi: 10.1007/s11914-017-0389-5. No abstract available.

PMID:
28712007
24.

Cervical Spine Deformities in Children With Rhizomelic Chondrodysplasia Punctata.

Abousamra O, Kandula V, Duker AL, Rogers KJ, Bober MB, Mackenzie WG.

J Pediatr Orthop. 2017 Jun 13. doi: 10.1097/BPO.0000000000001014. [Epub ahead of print]

PMID:
28614284
25.

Corrigendum: Mutations in genes encoding condensins cause microcephaly through decatenation failure at mitosis.

Martin CA, Murray JE, Carroll P, Leitch A, MacKenzie KJ, Halachev M, Fetit AE, Keith C, Bicknell LS, Fluteau A, Gautier P, Hall EA, Joss S, Soares G, Silva J, Bober MB, Duker A, Wise CA, Quigley AJ, Phadke SR; Deciphering Developmental Disorders Study,, Wood AJ, Vagnarelli P, Jackson AP.

Genes Dev. 2017 May 1;31(9):953. doi: 10.1101/gad.300871.117. No abstract available.

26.

Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review.

Bober MB, Jackson AP.

Curr Osteoporos Rep. 2017 Apr;15(2):61-69. doi: 10.1007/s11914-017-0348-1. Review. Erratum in: Curr Osteoporos Rep. 2017 Jul 15;:.

27.

Metatropic dysplasia-a skeletal dysplasia with challenging airway and other anesthetic concerns.

Theroux MC, Lopez M, Olszewsky PJ, DiCindio S, Arai L, Ditro C, Bober MB, Olla OO, Uejima T, West DW, Mackenzie WG.

Paediatr Anaesth. 2017 Jun;27(6):596-603. doi: 10.1111/pan.13101. Epub 2017 Mar 21.

PMID:
28321993
28.

Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism.

Reynolds JJ, Bicknell LS, Carroll P, Higgs MR, Shaheen R, Murray JE, Papadopoulos DK, Leitch A, Murina O, Tarnauskaitė Ž, Wessel SR, Zlatanou A, Vernet A, von Kriegsheim A, Mottram RM, Logan CV, Bye H, Li Y, Brean A, Maddirevula S, Challis RC, Skouloudaki K, Almoisheer A, Alsaif HS, Amar A, Prescott NJ, Bober MB, Duker A, Faqeih E, Seidahmed MZ, Al Tala S, Alswaid A, Ahmed S, Al-Aama JY, Altmüller J, Al Balwi M, Brady AF, Chessa L, Cox H, Fischetto R, Heller R, Henderson BD, Hobson E, Nürnberg P, Percin EF, Peron A, Spaccini L, Quigley AJ, Thakur S, Wise CA, Yoon G, Alnemer M, Tomancak P, Yigit G, Taylor AM, Reijns MA, Simpson MA, Cortez D, Alkuraya FS, Mathew CG, Jackson AP, Stewart GS.

Nat Genet. 2017 Apr;49(4):537-549. doi: 10.1038/ng.3790. Epub 2017 Feb 13.

29.

Valgus Hip Osteotomy in Children With Spondyloepiphyseal Dysplasia Congenita: Midterm Results.

Bayhan IA, Abousamra O, Rogers KJ, Bober MB, Miller F, Mackenzie WG.

J Pediatr Orthop. 2017 Jan 30. doi: 10.1097/BPO.0000000000000945. [Epub ahead of print]

PMID:
28141691
30.

Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis.

Martin CA, Murray JE, Carroll P, Leitch A, Mackenzie KJ, Halachev M, Fetit AE, Keith C, Bicknell LS, Fluteau A, Gautier P, Hall EA, Joss S, Soares G, Silva J, Bober MB, Duker A, Wise CA, Quigley AJ, Phadke SR; Deciphering Developmental Disorders Study, Wood AJ, Vagnarelli P, Jackson AP.

Genes Dev. 2016 Oct 1;30(19):2158-2172. Epub 2016 Oct 13. Erratum in: Genes Dev. 2017 May 1;31(9):953.

31.

Growth charts for individuals with rhizomelic chondrodysplasia punctata.

Duker AL, Niiler T, Eldridge G, Brereton NH, Braverman NE, Bober MB.

Am J Med Genet A. 2017 Jan;173(1):108-113. doi: 10.1002/ajmg.a.37961. Epub 2016 Sep 12.

PMID:
27616591
32.

Surgical outcomes of Majewski osteodysplastic primordial dwarfism Type II with intracranial vascular anomalies.

Teo M, Johnson JN, Bell-Stephens TE, Marks MP, Do HM, Dodd RL, Bober MB, Steinberg GK.

J Neurosurg Pediatr. 2016 Dec;25(6):717-723. Epub 2016 Sep 9.

PMID:
27611897
33.

Arthroscopic Treatment of Discoid Lateral Meniscus Tears in Children With Achondroplasia.

Atanda A Jr, Wallace M, Bober MB, Mackenzie W.

J Pediatr Orthop. 2016 Jul-Aug;36(5):e55-8. doi: 10.1097/BPO.0000000000000622.

PMID:
27276636
34.

Enzyme replacement therapy for treating mucopolysaccharidosis type IVA (Morquio A syndrome): effect and limitations.

Tomatsu S, Sawamoto K, Shimada T, Bober MB, Kubaski F, Yasuda E, Mason RW, Khan S, Alméciga-Díaz CJ, Barrera LA, Mackenzie WG, Orii T.

Expert Opin Orphan Drugs. 2015 Nov 1;3(11):1279-1290. Epub 2015 Oct 29.

35.

Metatropic dysplasia is associated with increased fracture risk.

Bober MB, Duker AL, Carney M, Ditro CP, Rogers K, Mackenzie WG.

Am J Med Genet A. 2016 May;170A(5):1373-6. doi: 10.1002/ajmg.a.37576. Epub 2016 Jan 29. No abstract available.

PMID:
26823048
36.

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
37.

TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism.

Harley ME, Murina O, Leitch A, Higgs MR, Bicknell LS, Yigit G, Blackford AN, Zlatanou A, Mackenzie KJ, Reddy K, Halachev M, McGlasson S, Reijns MAM, Fluteau A, Martin CA, Sabbioneda S, Elcioglu NH, Altmüller J, Thiele H, Greenhalgh L, Chessa L, Maghnie M, Salim M, Bober MB, Nürnberg P, Jackson SP, Hurles ME, Wollnik B, Stewart GS, Jackson AP.

Nat Genet. 2016 Jan;48(1):36-43. doi: 10.1038/ng.3451. Epub 2015 Nov 23.

38.

Obstructive airway in Morquio A syndrome, the past, the present and the future.

Tomatsu S, Averill LW, Sawamoto K, Mackenzie WG, Bober MB, Pizarro C, Goff CJ, Xie L, Orii T, Theroux M.

Mol Genet Metab. 2016 Feb;117(2):150-6. doi: 10.1016/j.ymgme.2015.09.007. Epub 2015 Sep 21.

39.

Cesarean delivery is not associated with decreased at-birth fracture rates in osteogenesis imperfecta.

Bellur S, Jain M, Cuthbertson D, Krakow D, Shapiro JR, Steiner RD, Smith PA, Bober MB, Hart T, Krischer J, Mullins M, Byers PH, Pepin M, Durigova M, Glorieux FH, Rauch F, Sutton VR, Lee B; Members of the BBD Consortium, Nagamani SC.

Genet Med. 2016 Jun;18(6):570-6. doi: 10.1038/gim.2015.131. Epub 2015 Oct 1.

40.

Congenital heart defects common in rhizomelic chondrodysplasia punctata.

Duker AL, Eldridge G, Braverman NE, Bober MB.

Am J Med Genet A. 2016 Jan;170A(1):270-2. doi: 10.1002/ajmg.a.37404. Epub 2015 Sep 26. No abstract available.

PMID:
26408048
41.

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
42.

A mutation in TRPV4 results in altered chondrocyte calcium signaling in severe metatropic dysplasia.

Hurd L, Kirwin SM, Boggs M, Mackenzie WG, Bober MB, Funanage VL, Duncan RL.

Am J Med Genet A. 2015 Oct;167A(10):2286-93. doi: 10.1002/ajmg.a.37182. Epub 2015 Aug 6.

PMID:
26249260
43.

Non-invasive pulmonary function test on Morquio patients.

Kubaski F, Tomatsu S, Patel P, Shimada T, Xie L, Yasuda E, Mason R, Mackenzie WG, Theroux M, Bober MB, Oldham HM, Orii T, Shaffer TH.

Mol Genet Metab. 2015 Aug;115(4):186-92. doi: 10.1016/j.ymgme.2015.06.007. Epub 2015 Jun 23.

44.

Impact of enzyme replacement therapy and hematopoietic stem cell transplantation in patients with Morquio A syndrome.

Tomatsu S, Sawamoto K, Alméciga-Díaz CJ, Shimada T, Bober MB, Chinen Y, Yabe H, Montaño AM, Giugliani R, Kubaski F, Yasuda E, Rodríguez-López A, Espejo-Mojica AJ, Sánchez OF, Mason RW, Barrera LA, Mackenzie WG, Orii T.

Drug Des Devel Ther. 2015 Apr 1;9:1937-53. doi: 10.2147/DDDT.S68562. eCollection 2015. Review.

45.

Cartilage hair hypoplasia: characteristics and orthopaedic manifestations.

Riley P Jr, Weiner DS, Leighley B, Jonah D, Morton DH, Strauss KA, Bober MB, Dicintio MS.

J Child Orthop. 2015 Apr;9(2):145-52. doi: 10.1007/s11832-015-0646-z. Epub 2015 Mar 13.

46.

Magnetic resonance evaluation of the knee in children and adolescents with achondroplasia.

Akyol Y, Averill LW, Atanda A, Kecskemethy HH, Bober MB, Mackenzie WG.

Pediatr Radiol. 2015 Jun;45(6):888-95. doi: 10.1007/s00247-014-3228-1. Epub 2014 Nov 29.

PMID:
25432442
47.

C-type natriuretic peptide plasma levels are elevated in subjects with achondroplasia, hypochondroplasia, and thanatophoric dysplasia.

Olney RC, Prickett TC, Espiner EA, Mackenzie WG, Duker AL, Ditro C, Zabel B, Hasegawa T, Kitoh H, Aylsworth AS, Bober MB.

J Clin Endocrinol Metab. 2015 Feb;100(2):E355-9. doi: 10.1210/jc.2014-2814. Epub 2014 Nov 11.

PMID:
25387261
48.

Surgical treatment of scoliosis in osteogenesis imperfecta with cement-augmented pedicle screw instrumentation.

Yilmaz G, Hwang S, Oto M, Kruse R, Rogers KJ, Bober MB, Cahill PJ, Shah SA.

J Spinal Disord Tech. 2014 May;27(3):174-80. doi: 10.1097/BSD.0b013e3182624b76.

PMID:
24945295
49.

A cross-sectional multicenter study of osteogenesis imperfecta in North America - results from the linked clinical research centers.

Patel RM, Nagamani SC, Cuthbertson D, Campeau PM, Krischer JP, Shapiro JR, Steiner RD, Smith PA, Bober MB, Byers PH, Pepin M, Durigova M, Glorieux FH, Rauch F, Lee BH, Hart T, Sutton VR.

Clin Genet. 2015 Feb;87(2):133-40. doi: 10.1111/cge.12409. Epub 2014 May 30.

50.

Hip pathology in Majewski osteodysplastic primordial dwarfism type II.

Karatas AF, Bober MB, Rogers K, Duker AL, Ditro CP, Mackenzie WG.

J Pediatr Orthop. 2014 Sep;34(6):585-90. doi: 10.1097/BPO.0000000000000183.

PMID:
24705347

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