A novel loss-of-function mutation inOTX2in a patient with...

Human Genetics 2010 / 06 Vol. 127; Iss. 6

A novel loss-of-function mutation inOTX2in a patient with anophthalmia and isolated growth hormone deficiency

Liat Ashkenazi-Hoffnung, Yael Lebenthal, Alexander W. Wyatt, Nicola K. Ragge, Sumito Dateki, Maki Fukami, Tsutomu Ogata, Moshe Phillip, Galia Gat-Yablonski
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Volume:
127
Language:
english
Pages:
9
DOI:
10.1007/s00439-010-0820-9
Date:
June, 2010
File:
PDF, 440 KB
english, 2010
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