ATP 6V0A2 ‐related cutis laxa in 10 novel patients: Focus on clinical variability and expansion of the phenotype-Reference-Cited by-同舟云学术

ATP 6V0A2 ‐related cutis laxa in 10 novel patients: Focus on clinical variability and expansion of the phenotype

Published:2018-08-20 Issue:10 Volume:28 Page:1142-1145
ISSN:0906-6705
Container-title:Experimental Dermatology
language:en
Short-container-title:Exp Dermatol

Author:

Beyens Aude¹^ORCID,Moreno‐Artero Ester²,Bodemer Christine²,Cox Helen³,Gezdirici Alper⁴,Yilmaz Gulec Elif⁴,Kahloul Najoua⁵,Khau Van Kien Philippe⁶,Ogur Gonul⁷,Harroche Annie⁸,Vasse Marc⁹,Salhi Aïcha¹⁰,Symoens Sofie¹,Hadj‐Rabia Smail²,Callewaert Bert¹^ORCID

Affiliation:

1. Center for Medical GeneticsGhent University Hospital Ghent Belgium

2. Reference Centre for Genodermatoses and Rare Skin Diseases (MAGEC) & Department of DermatologyDepartment of Paediatric Social WorkINSERM U1163 & Institut ImagineHôpital Universitaire Necker‐Enfants Malades, APHPUniversité Paris Descartes ‐ Sorbonne Paris Cité Paris France

3. West Midlands Regional Clinical Genetics ServiceClinical Genetics UnitBirmingham Women's and Children's NHS Foundation Trust Birmingham UK

4. Department of Medical GeneticsKanuni Sultan Suleyman Training and Research HospitalHealth Sciences University Istanbul Turkey

5. Center for PediatricsCHU Farhat Hached De Sousse Sousse Tunisia

6. Department of Medical GeneticsCentre Hospitalier Régional Universitaire de Nîmes Nîmes France

7. Department of Pediatric GeneticsFaculty of MedicineOndokuz Mayis University Samsun Turkey

8. Service d'Hématologie CliniqueCentre de Traitement de l'HémophilieHôpital Universitaire Necker‐Enfants Malades Paris France

9. Department of Clinical Biology & INSERM UMR‐S1176Foch Hospital Suresnes Le Kremlin‐Bicêtre France

10. Service de DermatologieFaculté de Médecine d'AlgerUniversité d'Alger Alger Algeria

Funder

Universiteit Gent

Publisher

Wiley

Subject

Dermatology,Molecular Biology,Biochemistry

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/exd.13723

Reference20 articles.

1. Cutis Laxa Type II and Wrinkly Skin Syndrome: Distinct Phenotypes

2. Polymicrogyria and myoclonic epilepsy in autosomal recessive cutis laxa type 2A

3. Further characterization of ATP6V0A2-related autosomal recessive cutis laxa

4. Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica

5. ATP6V0A2‐Related Cutis Laxa L. Van Maldergem W. Dobyns U. Kornak M. P. Adam H. H. Ardinger R. A. Pagon S. E. Wallace L. J. H. Bean K. Stephens A. Amemiya 1993

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