Haploinsufficiency of SOX5 at 12p12.1 is Associated with Developmental Delays with Prominent Language Delay, Behavior Problems, and Mild Dysmorphic Features

TY - JOUR

T1 - Haploinsufficiency of SOX5 at 12p12.1 is Associated with Developmental Delays with Prominent Language Delay, Behavior Problems, and Mild Dysmorphic Features

AU - Descartes, et al, Maria

AU - Descartes, Maria

N1 - SOX5 encodes a transcription factor involved in the regulation of chondrogenesis and the development of the nervous system. Despite its important developmental roles, SOX5 disruption has yet to be associated with human disease. We report one individual with a reciprocal translocation breakpoint with ...

PY - 2012

Y1 - 2012

UR - https://pubmed.ncbi.nlm.nih.gov/22290657/

M3 - Article

VL - 33

JO - Human Mutation

JF - Human Mutation

ER -