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Prenatal Diagnosis of Acromelic Frontonasal Dysostosis
Acromelic frontonasal dysostosis (AFND; MIM #603671) is a rare autosomal dominant genetic disorder caused by a heterozygous mutation in the ZSWIM6 (KIAA1577) gene located at chromosome 5q12.1. It is phenotypically characterized by frontonasal malformation with hypertelorism, telecanthus, nasal cleft...
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| Udgivet i: | Mol Syndromol |
|---|---|
| Main Authors: | , , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
S. Karger AG
2021
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7983669/ https://ncbi.nlm.nih.gov/pubmed/33776626 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000512304 |
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