A Report on a Family with TMTC3-Related Syndrome and Review

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 or periventricular...

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Detalles Bibliográficos
Autores principales: Hana, Sayeeda, karthik, Deepak, Shan, Jingxuan, El Hayek, Stephany, Chouchane, Lotfi, Megarbane, André
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7714604/
https://www.ncbi.nlm.nih.gov/pubmed/33293961
http://dx.doi.org/10.1155/2020/7163038

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7714604/
https://www.ncbi.nlm.nih.gov/pubmed/33293961
http://dx.doi.org/10.1155/2020/7163038

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