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Novel, heterozygous, de novo pathogenic variant (c.4963delA: p.Thr1656Glnfs*42) of the NF1 gene in a Chinese family with neurofibromatosis type 1
Neurofibromatosis type 1 (NF1) presents an autosomal dominant, haploinsufficient, and multisystemic disorder with patches of skin café-au-lait spots, lisch nodules in the iris, even tumors in the peripheral nervous system or fibromatous skin. In this study, a Chinese young woman who suffered from NF...
Autores principales: | Yang, Lisha, Fu, Jiewen, Cheng, Jingliang, Zhou, Baixu, Chen, Maomei, Anuchapreeda, Songyot, Fu, Junjiang |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10123994/ https://www.ncbi.nlm.nih.gov/pubmed/37095468 http://dx.doi.org/10.1186/s12920-023-01514-x |
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