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Whole genome sequencing reveals translocation breakpoints disrupting TP63 gene underlying split hand/foot malformation in a Chinese family
BACKGROUND: Split hand/foot malformation (SHFM) is a congenital limb developmental disorder, which impairs the fine activities of hand/foot in the affected individuals seriously. SHFM is commonly inherited as an autosomal dominant disease with incomplete penetrance. Chromosomal aberrations such as c...
Gardado en:
| Publicado en: | Mol Genet Genomic Med |
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| Main Authors: | , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
John Wiley and Sons Inc.
2021
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| Assuntos: | |
| Acceso en liña: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8104154/ https://ncbi.nlm.nih.gov/pubmed/33471964 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1604 |
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