A three generation X-linked family with Kabuki syndrome...

American Journal of Medical Genetics Part A 2014 / 05 Vol. 164; Iss. 5

A three generation X-linked family with Kabuki syndrome phenotype and a frameshift mutation in KDM6A

Lederer, Damien, Shears, Debbie, Benoit, Valérie, Verellen-Dumoulin, Christine, Maystadt, Isabelle
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Volume:
164
Language:
english
Journal:
American Journal of Medical Genetics Part A
DOI:
10.1002/ajmg.a.36442
Date:
May, 2014
File:
PDF, 234 KB
english, 2014
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