Homozygosity for a novel truncating mutation confirms...

American Journal of Medical Genetics Part A 2013 / 12 Vol. 161; Iss. 12

Homozygosity for a novel truncating mutation confirms TBX15 deficiency as the cause of Cousin syndrome

Dikoglu, Esra, Simsek-Kiper, Pelin Ozlem, Utine, Gulen Eda, Campos-Xavier, Belinda, Boduroglu, Koray, Bonafé, Luisa, Superti-Furga, Andrea, Unger, Sheila
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Volume:
161
Language:
english
Journal:
American Journal of Medical Genetics Part A
DOI:
10.1002/ajmg.a.36173
Date:
December, 2013
File:
PDF, 582 KB
english, 2013
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