Novel, heterozygous, de novo pathogenic variant (c.4963delA: p.Thr1656Glnfs*42) of the NF1 gene in a Chinese family with neurofibromatosis type 1
Abstract 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 suffer...
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| Main Authors: | , , , , , , |
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| Format: | Book |
| Published: |
BMC,
2023-04-01T00:00:00Z.
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| Online Access: | Connect to this object online. |
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