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A novel frameshift variant in UBA2 causing split-hand/foot malformations in a Pakistani family
Split-hand/foot malformation (SHFM) shows diverse heterogeneity and manifests with reduced penetrance and variable expressivity. This study investigated the underlying genetic cause of a family segregating SHFM. Exome sequencing followed by Sanger sequencing identified a novel single nucleotide hete...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group UK
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10206101/ https://www.ncbi.nlm.nih.gov/pubmed/37221169 http://dx.doi.org/10.1038/s41439-023-00242-z |