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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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| Publicado no: | Case Rep Med |
|---|---|
| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Hindawi
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7714604/ https://ncbi.nlm.nih.gov/pubmed/33293961 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2020/7163038 |
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