A 2.0 Mb microdeletion in proximal chromosome 14q12, involving regulatory elements of FOXG1, with the coding region of FOXG1 being unaffected, results in severe developmental delay, microcephaly, and hypoplasia of the corpus callosum
Takagi, Masaki, Sasaki, Goro, Mitsui, Toshikatsu, Honda, Misa, Tanaka, Yoko, Hasegawa, TomonobuVolume:
56
Language:
english
Journal:
European Journal of Medical Genetics
DOI:
10.1016/j.ejmg.2013.05.012
Date:
September, 2013
File:
PDF, 763 KB
english, 2013