Stankiewicz et al., 2017 - Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. American journal of human genetics   101(4):503-515 Full text @ Am. J. Hum. Genet.
Human Disease / Model Data (2 Records)
Human Disease Fish Environment Evidence Code
intellectual disability
microcephaly
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