MED13L haploinsufficiency syndrome: A de novo...

American Journal of Medical Genetics Part A 2017 / 05 Vol. 173; Iss. 5

MED13L haploinsufficiency syndrome: A de novo frameshift and recurrent intragenic deletions due to parental mosaicism

Yamamoto, Toshiyuki, Shimojima, Keiko, Ondo, Yumiko, Shimakawa, Shuichi, Okamoto, Nobuhiko
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Volume:
173
Language:
english
Journal:
American Journal of Medical Genetics Part A
DOI:
10.1002/ajmg.a.38168
Date:
May, 2017
File:
PDF, 1011 KB
english, 2017
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