A familial CHARGE syndrome with a CHD7 nonsense mutation...

Clinical Dysmorphology 2008 / 10 Vol. 17; Iss. 4

A familial CHARGE syndrome with a CHD7 nonsense mutation and new clinical features

Vuorela, Pia E., Penttinen, Maila T., Hietala, Marja H., Laine, Jukka O., Huoponen, Kirsi A., Kääriäinen, Helena A.
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Volume:
17
Language:
english
Journal:
Clinical Dysmorphology
DOI:
10.1097/mcd.0b013e328306a704
Date:
October, 2008
File:
PDF, 140 KB
english, 2008
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