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- Title
Long‐term survival of harlequin ichthyosis in two siblings with novel ABCA12 mutations.
- Authors
Niu, Xuping; Li, Xinhua; Han, Qixin; Hou, Ruixia; Zhang, Kaiming
- Abstract
This article discusses a rare genetic skin disorder called harlequin ichthyosis (HI), which is characterized by a high mortality rate. The disorder is caused by mutations in the ABCA12 gene, which impairs lipid transport. The article presents a case study of two siblings with HI who have survived long-term without systemic treatment. The study also identifies novel mutations in the ABCA12 gene in these siblings. The article emphasizes the severity of HI and the need for early prenatal diagnosis.
- Subjects
ICHTHYOSIS; SIBLINGS; RECESSIVE genes; PRENATAL diagnosis; GENETIC disorders; GENETIC mutation
- Publication
International Journal of Dermatology, 2023, Vol 62, Issue 12, pe639
- ISSN
0011-9059
- Publication type
Article
- DOI
10.1111/ijd.16812