Identification of copy number variants associated with BPES-like phenotypes-Reference-Cited by-同舟云学术

Identification of copy number variants associated with BPES-like phenotypes

Published:2008-10-25 Issue:5 Volume:124 Page:489-498
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Gijsbers Antoinet C. J.,D’haene Barbara,Hilhorst-Hofstee Yvonne,Mannens Marcel,Albrecht Beate,Seidel Joerg,Witt David R.,Maisenbacher Melissa K.,Loeys Bart,van Essen Ton,Bakker Egbert,Hennekam Raoul,Breuning Martijn H.,De Baere Elfride,Ruivenkamp Claudia A. L.

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s00439-008-0574-9

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2. Blepharophimosis–ptosis–epicanthus inversus syndrome caused by a 54-kb microdeletion in a FOXL2 cis-regulatory element;Clinical Dysmorphology;2018-04

3. Further evidence that a blepharophimosis syndrome phenotype is associated with a specific class of mutation in theADNPgene;American Journal of Medical Genetics Part A;2017-04-13

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