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Items: 1 to 50 of 288

1.

Concomitant PIK3CD and TNFRSF9 deficiencies cause chronic active Epstein-Barr virus infection of T cells.

Rodriguez R, Fournier B, Cordeiro DJ, Winter S, Izawa K, Martin E, Boutboul D, Lenoir C, Fraitag S, Kracker S, Watts TH, Picard C, Bruneau J, Callebaut I, Fischer A, Neven B, Latour S.

J Exp Med. 2019 Sep 19. pii: jem.20190678. doi: 10.1084/jem.20190678. [Epub ahead of print]

PMID:
31537641
2.

[Erythroderma revealing IPEX syndrome].

Bachelerie M, Merlin E, Beltzung F, Franck F, Joubert J, Hall T, Fraitag S, D'Incan M.

Ann Dermatol Venereol. 2019 Jun 21. pii: S0151-9638(19)30195-4. doi: 10.1016/j.annder.2019.04.026. [Epub ahead of print] French.

PMID:
31230776
3.

Local Inhibition of MEK/Akt Prevents Cellular Growth in Human Congenital Melanocytic Nevi.

Rouillé T, Aractingi S, Kadlub N, Fraitag S, How-Kit A, Daunay A, Hivelin M, Moguelet P, Picard A, Fontaine RH, Guégan S.

J Invest Dermatol. 2019 Sep;139(9):2004-2015.e13. doi: 10.1016/j.jid.2019.03.1156. Epub 2019 May 3.

PMID:
31059696
4.

Association of PDGFRB Mutations With Pediatric Myofibroma and Myofibromatosis.

Dachy G, de Krijger RR, Fraitag S, Théate I, Brichard B, Hoffman SB, Libbrecht L, Arts FA, Brouillard P, Vikkula M, Limaye N, Demoulin JB.

JAMA Dermatol. 2019 Apr 24. doi: 10.1001/jamadermatol.2019.0114. [Epub ahead of print]

PMID:
31017643
5.

CD30 expression in cutaneous lesions of systemic mastocytosis: clinical, biological and histopathological analysis of 27 patients.

Poirier E, Fraitag S, Tezenas du Montcel S, Moguelet P, Charlotte F, Lortholary O, Hermine O, Canioni D, Barete S; CEREMAST.

J Eur Acad Dermatol Venereol. 2019 Sep;33(9):e344-e347. doi: 10.1111/jdv.15633. Epub 2019 May 8. No abstract available.

PMID:
30989735
6.

Malignant melanoma with areas of rhabdomyosarcomatous differentiation arising in a giant congenital nevus with RAF1 gene fusion.

Baltres A, Salhi A, Houlier A, Pissaloux D, Tirode F, Haddad V, Karanian M, Ysmail-Dahlouk S, Boukendakdji F, Dahlouk D, Allaoua F, Metref M, Djeridane A, Fraitag S, de la Fouchardière A.

Pigment Cell Melanoma Res. 2019 Sep;32(5):708-713. doi: 10.1111/pcmr.12785. Epub 2019 Apr 21.

PMID:
30945443
7.

Mosaic abnormalities of the skin: review and guidelines from the European Reference Network for rare skin diseases.

Kinsler VA, Boccara O, Fraitag S, Torrelo A, Vabres P, Diociaiuti A.

Br J Dermatol. 2019 Mar 28. doi: 10.1111/bjd.17924. [Epub ahead of print] Review.

PMID:
30920652
8.

Laryngeal lesion associated with epidermolysis bullosa secondary to congenital plectin deficiency.

Bourhis T, Buche S, Fraitag S, Fayoux P.

Eur Ann Otorhinolaryngol Head Neck Dis. 2019 Jun;136(3):203-205. doi: 10.1016/j.anorl.2019.02.009. Epub 2019 Mar 15.

PMID:
30880037
9.

Cutaneous granulomas with primary immunodeficiency in children: a report of 17 new patients and a review of the literature.

Leclerc-Mercier S, Moshous D, Neven B, Mahlaoui N, Martin L, Pellier I, Blanche S, Picard C, Fischer A, Perot P, Eloit M, Fraitag S, Bodemer C.

J Eur Acad Dermatol Venereol. 2019 Jul;33(7):1412-1420. doi: 10.1111/jdv.15568. Epub 2019 Apr 15.

PMID:
30869812
10.

Late ulceration of residual abortive infantile haemangioma: a rare complication.

Welfringer-Morin A, Fraitag S, Balguerie X, Laaengh-Massoni C, Leclerc-Mercier S, Hadj-Rabia S, Bodemer C, Boccara O.

Br J Dermatol. 2019 Aug;181(2):395-396. doi: 10.1111/bjd.17717. Epub 2019 Apr 22. No abstract available.

PMID:
30719710
11.

Long-term evolving profile of childhood autoimmune blistering diseases: Retrospective study on 38 children.

Welfringer-Morin A, Bekel L, Bellon N, Gantzer A, Boccara O, Hadj-Rabia S, Leclerc-Mercier S, Frassati-Biaggi A, Fraitag S, Bodemer C.

J Eur Acad Dermatol Venereol. 2019 Jun;33(6):1158-1163. doi: 10.1111/jdv.15456. Epub 2019 Mar 14.

PMID:
30702174
12.

Author Correction: Germline HAVCR2 mutations altering TIM-3 characterize subcutaneous panniculitis-like T cell lymphomas with hemophagocytic lymphohistiocytic syndrome.

Gayden T, Sepulveda FE, Khuong-Quang DA, Pratt J, Valera ET, Garrigue A, Kelso S, Sicheri F, Mikael LG, Hamel N, Bajic A, Dali R, Deshmukh S, Dervovic D, Schramek D, Guerin F, Taipale M, Nikbakht H, Majewski J, Moshous D, Charlebois J, Abish S, Bole-Feysot C, Nitschke P, Bader-Meunier B, Mitchell D, Thieblemont C, Battistella M, Gravel S, Nguyen VH, Conyers R, Diana JS, McCormack C, Prince HM, Besnard M, Blanche S, Ekert PG, Fraitag S, Foulkes WD, Fischer A, Neven B, Michonneau D, de Saint Basile G, Jabado N.

Nat Genet. 2019 Jan;51(1):196. doi: 10.1038/s41588-018-0304-8.

PMID:
30429576
13.

Germline HAVCR2 mutations altering TIM-3 characterize subcutaneous panniculitis-like T cell lymphomas with hemophagocytic lymphohistiocytic syndrome.

Gayden T, Sepulveda FE, Khuong-Quang DA, Pratt J, Valera ET, Garrigue A, Kelso S, Sicheri F, Mikael LG, Hamel N, Bajic A, Dali R, Deshmukh S, Dervovic D, Schramek D, Guerin F, Taipale M, Nikbakht H, Majewski J, Moshous D, Charlebois J, Abish S, Bole-Feysot C, Nitschke P, Bader-Meunier B, Mitchell D, Thieblemont C, Battistella M, Gravel S, Nguyen VH, Conyers R, Diana JS, McCormack C, Prince HM, Besnard M, Blanche S, Ekert PG, Fraitag S, Foulkes WD, Fischer A, Neven B, Michonneau D, de Saint Basile G, Jabado N.

Nat Genet. 2018 Dec;50(12):1650-1657. doi: 10.1038/s41588-018-0251-4. Epub 2018 Oct 29. Erratum in: Nat Genet. 2018 Nov 14;:.

PMID:
30374066
14.

Highly sensitive methods are required to detect mutations in histiocytoses.

Melloul S, Hélias-Rodzewicz Z, Cohen-Aubart F, Charlotte F, Fraitag S, Terrones N, Riller Q, Chazal T, Héritier S, Moreau A, Kambouchner M, Copin MC, Donadieu J, Taly V, Amoura Z, Haroche J, Emile JF.

Haematologica. 2019 Mar;104(3):e97-e99. doi: 10.3324/haematol.2018.201194. Epub 2018 Sep 27. No abstract available.

15.

Langerhans Cell Histiocytoma: A Benign Histiocytic Neoplasm of Diverse Lines of Terminal Differentiation.

Dupeux M, Boccara O, Frassati-Biaggi A, Hélias-Rodzewicz Z, Leclerc-Mercier S, Bodemer C, Molina TJ, Emile JF, Fraitag S.

Am J Dermatopathol. 2019 Jan;41(1):29-36. doi: 10.1097/DAD.0000000000001255. Review.

PMID:
30252693
16.

Verrucous hemangioma (also known as verrucous venous malformation): A vascular anomaly frequently misdiagnosed as a lymphatic malformation.

Boccara O, Ariche-Maman S, Hadj-Rabia S, Chrétien-Marquet B, Frassati-Biaggi A, Zazurca F, Brunelle F, Soupre V, Bodemer C, Fraitag S.

Pediatr Dermatol. 2018 Nov;35(6):e378-e381. doi: 10.1111/pde.13671. Epub 2018 Sep 14.

PMID:
30216519
17.

Novel KHDRBS1-NTRK3 rearrangement in a congenital pediatric CD34-positive skin tumor: a case report.

Tallegas M, Fraitag S, Binet A, Orbach D, Jourdain A, Reynaud S, Pierron G, Machet MC, Maruani A.

Virchows Arch. 2019 Jan;474(1):111-115. doi: 10.1007/s00428-018-2415-0. Epub 2018 Sep 6.

PMID:
30187166
18.

[Dermatopathology histoseminar. Case 3].

Fraitag S.

Ann Pathol. 2018 Aug;38(4):223-229. doi: 10.1016/j.annpat.2018.05.012. Epub 2018 Jul 4. Review. French. No abstract available.

PMID:
30082024
19.

[Dermatopathology histoseminar. Case 2].

Nohra O, Fraitag S.

Ann Pathol. 2018 Aug;38(4):219-222. doi: 10.1016/j.annpat.2018.05.011. Epub 2018 Jul 4. Review. French. No abstract available.

PMID:
30082023
20.

Multiple capillary malformations of progressive onset: Capillary malformation-arteriovenous malformation syndrome (CM-AVM).

Gourier G, Audebert-Bellanger S, Vourc'h P, Fraitag S, L'Hérondelle K, Labouche A, Misery L, Abasq-Thomas C.

Ann Dermatol Venereol. 2018 Aug - Sep;145(8-9):486-491. doi: 10.1016/j.annder.2018.04.010. Epub 2018 Jul 26.

PMID:
30056992
21.

Congenital fibroblastic connective tissue nevi: Unusual and misleading presentations in three infantile cases.

Bouaoud J, Fraitag S, Soupre V, Mitrofanoff M, Boccara O, Galliot C, Bodemer C, Picard A, Khonsari RH.

Pediatr Dermatol. 2018 Sep;35(5):644-650. doi: 10.1111/pde.13571. Epub 2018 Jul 19.

PMID:
30024070
22.

[Dermatopathology histoseminar. Case 1].

Fraitag S.

Ann Pathol. 2018 Aug;38(4):215-218. doi: 10.1016/j.annpat.2018.05.010. Epub 2018 Jul 3. Review. French. No abstract available.

PMID:
29980307
23.

[Dermatopathology histoseminar: Introduction].

Fraitag S, Lamant L.

Ann Pathol. 2018 Aug;38(4):207-209. doi: 10.1016/j.annpat.2018.05.003. Epub 2018 Jun 13. French. No abstract available.

PMID:
29908855
24.

A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity.

Béziat V, Li J, Lin JX, Ma CS, Li P, Bousfiha A, Pellier I, Zoghi S, Baris S, Keles S, Gray P, Du N, Wang Y, Zerbib Y, Lévy R, Leclercq T, About F, Lim AI, Rao G, Payne K, Pelham SJ, Avery DT, Deenick EK, Pillay B, Chou J, Guery R, Belkadi A, Guérin A, Migaud M, Rattina V, Ailal F, Benhsaien I, Bouaziz M, Habib T, Chaussabel D, Marr N, El-Benna J, Grimbacher B, Wargon O, Bustamante J, Boisson B, Müller-Fleckenstein I, Fleckenstein B, Chandesris MO, Titeux M, Fraitag S, Alyanakian MA, Leruez-Ville M, Picard C, Meyts I, Di Santo JP, Hovnanian A, Somer A, Ozen A, Rezaei N, Chatila TA, Abel L, Leonard WJ, Tangye SG, Puel A, Casanova JL.

Sci Immunol. 2018 Jun 15;3(24). pii: eaat4956. doi: 10.1126/sciimmunol.aat4956.

25.

The PERIOPTER syndrome (periorificial and ptychotropic erythrokeratoderma): a new Mendelian disorder of cornification.

Bursztejn AC, Happle R, Charbit L, Küsel J, Leclerc-Mercier S, Hadj-Rabia S, Fraitag S, Zimmer A, Fischer J.

J Eur Acad Dermatol Venereol. 2019 Jan;33(1):e1-e3. doi: 10.1111/jdv.15089. Epub 2018 Jun 13. No abstract available.

PMID:
29799648
26.

Paediatric mastocytosis: long-term follow-up of 53 patients with whole sequencing of KIT. A prospective study.

Meni C, Georgin-Lavialle S, Le Saché de Peufeilhoux L, Jais JP, Hadj-Rabia S, Bruneau J, Fraitag S, Hanssens K, Dubreuil P, Hermine O, Bodemer C.

Br J Dermatol. 2018 Oct;179(4):925-932. doi: 10.1111/bjd.16795. Epub 2018 Sep 9.

PMID:
29787623
27.

[Recurrent nevus: Case-report about a pagetoid form occurring from a congenital nevus in infancy].

Bompy L, Levasseur J, Hallier A, Fraitag S, Aubriot-Lorton MH, Bonniaud B, Zwetyenga N.

Ann Chir Plast Esthet. 2018 Jul;63(4):349-352. doi: 10.1016/j.anplas.2018.03.003. Epub 2018 Apr 4. French.

PMID:
29625761
28.

Inherited Immunodeficiency: A New Association With Early-Onset Childhood Panniculitis.

Bader-Meunier B, Rieux-Laucat F, Touzot F, Frémond ML, André-Schmutz I, Fraitag S, Bodemer C.

Pediatrics. 2018 Apr;141(Suppl 5):S496-S500. doi: 10.1542/peds.2017-0213.

29.

Severe dermatophytosis in solid organ transplant recipients: A French retrospective series and literature review.

Rouzaud C, Chosidow O, Brocard A, Fraitag S, Scemla A, Anglicheau D, Bouaziz JD, Dupin N, Bougnoux ME, Hay R, Lortholary O, Lanternier F; French Mycoses Study Group.

Transpl Infect Dis. 2018 Feb;20(1). doi: 10.1111/tid.12799. Epub 2018 Jan 25.

PMID:
29094463
30.

Self-healing juvenile cutaneous mucinosis: Clinical and histopathologic findings of 9 patients: The relevance of long-term follow-up.

Luchsinger I, Coulombe J, Rongioletti F, Haspeslagh M, Dompmartin A, Melki I, Dagher R, Bader-Meunier B, Fraitag S, Bodemer C.

J Am Acad Dermatol. 2018 Jun;78(6):1164-1170. doi: 10.1016/j.jaad.2017.10.023. Epub 2017 Oct 21.

PMID:
29066274
31.

Systemic juvenile xanthogranuloma: a case of spontaneous regression of intramedullary spinal cord, cerebral, and cutaneous lesions.

Morice A, Fraitag S, Miquel C, Rose CS, Puget S.

J Neurosurg Pediatr. 2017 Dec;20(6):556-560. doi: 10.3171/2017.6.PEDS17113. Epub 2017 Sep 29.

PMID:
28960169
32.

Fibrous Arthropathy Associated With Morphea: A New Cause of Diffuse Acquired Joint Contractures.

Merlin E, Breton S, Fraitag S, Stéphan JL, Wouters C, Bodemer C, Bader-Meunier B.

Pediatrics. 2017 Oct;140(4). pii: e20161899. doi: 10.1542/peds.2016-1899.

33.

Plaque-Like Myofibroblastic Tumor: Report of 4 Cases.

Moulonguet I, Biaggi A, Eschard C, Durlach A, Stock N, Delanoé P, Coussirat-Voreaux MF, Fraitag S.

Am J Dermatopathol. 2017 Oct;39(10):767-772. doi: 10.1097/DAD.0000000000000869.

PMID:
28930106
34.

Clinical and pathological significance of cutaneous manifestations in ANCA-associated vasculitides.

Frumholtz L, Laurent-Roussel S, Aumaître O, Maurier F, Le Guenno G, Carlotti A, Dallot A, Kemeny JL, Antunes L, Froment N, Fraitag S, London J, Berezne A, Terris B, Le Jeunne C, Mouthon L, Aractingi S, Guillevin L, Dupin N, Terrier B; French Vasculitis Study Group.

Autoimmun Rev. 2017 Nov;16(11):1138-1146. doi: 10.1016/j.autrev.2017.09.009. Epub 2017 Sep 14. Review.

PMID:
28918161
35.

Focal hyperkeratosis overlying the palmar faces of interphalangeal and metacarpophalangeal joints revealing a juvenile dermatomyositis.

Abasq-Thomas C, Devauchelle V, Fraitag S, Jay N, Gourier G, Le Duc Pennec A, Brenaut E, Misery L.

J Eur Acad Dermatol Venereol. 2018 Mar;32(3):e97-e98. doi: 10.1111/jdv.14578. Epub 2017 Oct 5. No abstract available.

PMID:
28895209
36.

Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas.

Bal E, Park HS, Belaid-Choucair Z, Kayserili H, Naville M, Madrange M, Chiticariu E, Hadj-Rabia S, Cagnard N, Kuonen F, Bachmann D, Huber M, Le Gall C, Côté F, Hanein S, Rosti RÖ, Aslanger AD, Waisfisz Q, Bodemer C, Hermine O, Morice-Picard F, Labeille B, Caux F, Mazereeuw-Hautier J, Philip N, Levy N, Taieb A, Avril MF, Headon DJ, Gyapay G, Magnaldo T, Fraitag S, Crollius HR, Vabres P, Hohl D, Munnich A, Smahi A.

Nat Med. 2017 Oct;23(10):1226-1233. doi: 10.1038/nm.4368. Epub 2017 Sep 4.

37.

Necrotizing Infundibular Crystalline Folliculitis: An Unusual Clinical Presentation and Demonstration of the Presence of Calcium Palmitate.

Beaufrère A, Garcia V, Frochot V, Molina T, Daudon M, Fraitag S.

Am J Dermatopathol. 2018 Jan;40(1):e9-e11. doi: 10.1097/DAD.0000000000000964.

PMID:
28816737
38.

Successful Use of Sirolimus in Children With Large Mesenteric Lymphatic Lesions.

Gastineau S, Paolella G, Talbotec C, Verkarre V, Sauvat F, Goulet O, Fraitag S, Lacaille F.

J Pediatr Gastroenterol Nutr. 2018 Jan;66(1):e24-e25. doi: 10.1097/MPG.0000000000001703. No abstract available. Erratum in: J Pediatr Gastroenterol Nutr. 2018 Apr;66(4):709.

PMID:
28777125
39.

[Extensive connective tissue nevus in children].

Lafargue O, Fraitag S, Boccara O, Comoz F, Rod J, Turgis Mezerette C, Dompmartin A.

Ann Dermatol Venereol. 2017 Nov;144(11):700-704. doi: 10.1016/j.annder.2017.06.006. Epub 2017 Jul 29. French.

PMID:
28760502
40.

New somatic BRAF splicing mutation in Langerhans cell histiocytosis.

Héritier S, Hélias-Rodzewicz Z, Chakraborty R, Sengal AG, Bellanné-Chantelot C, Thomas C, Moreau A, Fraitag S, Allen CE, Donadieu J, Emile JF.

Mol Cancer. 2017 Jul 6;16(1):115. doi: 10.1186/s12943-017-0690-z.

41.

Congenital Infantile Fibrosarcoma Associated With a Lipofibromatosis-Like Component: One Train May Be Hiding Another.

Swiadkiewicz R, Galmiche L, Belhous K, Boccara O, Fraitag S, Pedeutour F, Dadone B, Buis J, Picard A, Orbach D, Kadlub N.

Am J Dermatopathol. 2017 Jun;39(6):463-467. doi: 10.1097/DAD.0000000000000696.

PMID:
28525423
42.

Probable DRESS syndrome induced by IL-1 inhibitors.

Polivka L, Diana JS, Soria A, Bodemer C, Quartier P, Fraitag S, Bader-Meunier B.

Orphanet J Rare Dis. 2017 May 11;12(1):87. doi: 10.1186/s13023-017-0645-x.

43.

Skin manifestations among GATA2-deficient patients.

Polat A, Dinulescu M, Fraitag S, Nimubona S, Toutain F, Jouneau S, Poullot E, Droitcourt C, Dupuy A.

Br J Dermatol. 2018 Mar;178(3):781-785. doi: 10.1111/bjd.15548. Epub 2017 Oct 11.

44.

Prepubertal vulvar fibroma, a rare entity little known to dermatologists: report of two cases.

Nguyen S, Fraitag S, Cardot-Leccia N, Lagrange S, Trastour C, Passeron T, Croce S, Coindre JM, Lacour JP, Montaudié H.

J Eur Acad Dermatol Venereol. 2017 Oct;31(10):e448-e449. doi: 10.1111/jdv.14283. Epub 2017 May 8. No abstract available.

PMID:
28419575
45.

Heterozygous PDGFRB Mutation in a Three-generation Family with Autosomal Dominant Infantile Myofibromatosis.

Lepelletier C, Al-Sarraj Y, Bodemer C, Shaath H, Fraitag S, Kambouris M, Hamel-Teillac D, El Shanti H, Hadj-Rabia S.

Acta Derm Venereol. 2017 Jul 6;97(7):858-859. doi: 10.2340/00015555-2671. No abstract available.

46.

Pharmacological modulators of autophagy activate a parallel noncanonical pathway driving unconventional LC3 lipidation.

Jacquin E, Leclerc-Mercier S, Judon C, Blanchard E, Fraitag S, Florey O.

Autophagy. 2017 May 4;13(5):854-867. doi: 10.1080/15548627.2017.1287653. Epub 2017 Feb 15.

47.

Masitinib for treatment of severely symptomatic indolent systemic mastocytosis: a randomised, placebo-controlled, phase 3 study.

Lortholary O, Chandesris MO, Bulai Livideanu C, Paul C, Guillet G, Jassem E, Niedoszytko M, Barete S, Verstovsek S, Grattan C, Damaj G, Canioni D, Fraitag S, Lhermitte L, Georgin Lavialle S, Frenzel L, Afrin LB, Hanssens K, Agopian J, Gaillard R, Kinet JP, Auclair C, Mansfield C, Moussy A, Dubreuil P, Hermine O.

Lancet. 2017 Feb 11;389(10069):612-620. doi: 10.1016/S0140-6736(16)31403-9. Epub 2017 Jan 7.

48.

Mutations in the ERCC2 (XPD) gene associated with severe fetal ichthyosis and dysmorphic features.

Miguet M, Thevenon J, Laugel V, Lefebvre M, Bourchany A, Rivière JB, Duffourd Y, Schaefer E, Antal MC, Abida R, Weingertner AS, Kremer V, Vabres P, Morice-Picard F, Gonzales M, Lipsker D, Fraitag S, Mandel JL, Chelly J, Dollfus H, Faivre L, Thauvin-Robinet C, Calmels N, El Chehadeh S.

Prenat Diagn. 2016 Dec;36(13):1276-1279. doi: 10.1002/pd.4965. Epub 2016 Dec 2. No abstract available.

PMID:
27862069
49.

Dual T cell- and B cell-intrinsic deficiency in humans with biallelic RLTPR mutations.

Wang Y, Ma CS, Ling Y, Bousfiha A, Camcioglu Y, Jacquot S, Payne K, Crestani E, Roncagalli R, Belkadi A, Kerner G, Lorenzo L, Deswarte C, Chrabieh M, Patin E, Vincent QB, Müller-Fleckenstein I, Fleckenstein B, Ailal F, Quintana-Murci L, Fraitag S, Alyanakian MA, Leruez-Ville M, Picard C, Puel A, Bustamante J, Boisson-Dupuis S, Malissen M, Malissen B, Abel L, Hovnanian A, Notarangelo LD, Jouanguy E, Tangye SG, Béziat V, Casanova JL.

J Exp Med. 2016 Oct 17;213(11):2413-2435. Epub 2016 Sep 19.

50.

[Pachydermodactyly in an adolescent].

d'Aunay V, Moulonguet I, Fraitag S.

Ann Dermatol Venereol. 2017 Feb;144(2):131-133. doi: 10.1016/j.annder.2016.09.046. Epub 2016 Oct 24. French. No abstract available.

PMID:
27789053

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