Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type-Reference-Cited by-同舟云学术

Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type

Published:2015-12 Issue:6 Volume:97 Page:790-800
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Isrie Mala,Breuss Martin,Tian Guoling,Hansen Andi Harley,Cristofoli Francesca,Morandell Jasmin,Kupchinsky Zachari A.,Sifrim Alejandro,Rodriguez-Rodriguez Celia Maria,Dapena Elena Porta,Doonanco Kurston,Leonard Norma,Tinsa Faten,Moortgat Stéphanie,Ulucan Hakan,Koparir Erkan,Karaca Ender,Katsanis Nicholas,Marton Valeria,Vermeesch Joris Robert,Davis Erica E.,Cowan Nicholas J.,Keays David Anthony,Van Esch Hilde

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference34 articles.

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2. Multiple circumferential skin folds and other anomalies: a problem in syndrome delineation;Cohen;Clin. Dysmorphol.,1993

3. New syndrome?: MCA/MR syndrome with multiple circumferential skin creases;Elliott;Am. J. Med. Genet.,1996

4. A second patient with MCA/MR syndrome with multiple circumferential skin creases;Leonard;Am. J. Med. Genet.,2002

5. New syndrome of congenital circumferential skin folds associated with multiple congenital anomalies;Basel-Vanagaite;Pediatr. Dermatol.,2012

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