Neurofibromatosis type 1 due to possible maternal mosaicism in a family with two affected siblings

Congenit Anom (Kyoto). 2020 Sep;60(5):156-157. doi: 10.1111/cga.12373. Epub 2020 May 5.

Authors

Yan-Dong Yang¹, Fan Jiang², Dong-Zhi Li²

Affiliations

¹ The Sixth Affiliated Hospital of Sun Yat-sen University, Guangzhou, China.
² Guangzhou Women and Children's Medical Center, Guangzhou, China.

PMID: 32352596
DOI: 10.1111/cga.12373

No abstract available

MeSH terms

Adult
Alleles
Child, Preschool
Exome Sequencing
Female
Genetic Association Studies
Genetic Predisposition to Disease
Humans
Male
Maternal Inheritance*
Mosaicism*
Mutation
Neurofibromatosis 1 / diagnosis*
Neurofibromatosis 1 / genetics*
Neurofibromin 1 / genetics
Pedigree
Phenotype
Radiography
Siblings*

Substances

NF1 protein, human
Neurofibromin 1