A Report on a Family with TMTC3-Related Syndrome and Review
Sign Up to like & getrecommendations! Published in 2020 at "Case Reports in Medicine"
DOI: 10.1155/2020/7163038
Abstract: Recessive mutations in the TMTC3 gene have been reported in thirteen patients to date exhibiting development delay, intellectual disability (ID), seizures, and muscular hypotonia, accompanied occasionally by neuronal migration defects expressed as either cobblestone lissencephaly… read more here.
Keywords: related syndrome; report family; tmtc3 related; family tmtc3 ... See more keywords