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...

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Detalles Bibliográficos
Autores principales: Yang, Lisha, Fu, Jiewen, Cheng, Jingliang, Zhou, Baixu, Chen, Maomei, Anuchapreeda, Songyot, Fu, Junjiang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
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

Internet

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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