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CNTNAP1 Mutations and Their Clinical Presentations: New Case Report and Systematic Review
Lethal congenital contracture syndrome type 7 (LCCS7) and congenital hypomyelinating neuropathy type 3 (CHN3) are rare autosomal recessive diseases, characterized by severe neonatal hypotonia, polyhydramnios, arthrogryposis, facial diplegia, and severe motor paralysis, leading to death in early infa...
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| Publicat a: | Case Rep Med |
|---|---|
| Autors principals: | , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Hindawi
2020
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7174947/ https://ncbi.nlm.nih.gov/pubmed/32328110 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2020/8795607 |
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