A novel NSDHL variant in CHILD syndrome with gastrointestinal manifestations and localized skin involvement.
Tan EC, Chia SY, Rafi'ee K, Lee SX, Kwek ABE, Tan SH, Ng VWL, Wei H, Koo S, Koh AL, Koh MJ.
Tan EC, et al.
Mol Genet Genomic Med. 2022 Jan;10(1):e1848. doi: 10.1002/mgg3.1848. Epub 2021 Dec 26.
Mol Genet Genomic Med. 2022.
PMID: 34957706
Free PMC article.
METHODS AND RESULTS: We report an adult female of Malay ancestry who presented with minimal skin and limb involvement. She was only diagnosed in adulthood when she presented with gastrointestinal symptoms and worsening of skin manifestations. ...The novel variant wa …
METHODS AND RESULTS: We report an adult female of Malay ancestry who presented with minimal skin and limb involvement. She was only d …