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Targeted regions sequencing identified four novel PNPLA1 mutations in two Chinese families with autosomal recessive congenital ichthyosis.

Molecular genetics & genomic medicine - 1 Feb 2020

Li Liangshan, Liu Wenmiao, Xu Yinglei, Li Miaomiao, Tang Qian, Yu Bo, Cai Renmei, Liu Shiguo

Abstract excerpt

BACKGROUND: Autosomal recessive congenital ichthyosis (ARCI) is a rare genetically heterogeneous cutaneous disease predominantly characterized by erythroderma, generalized abnormal scaling of the whole body and a collodion membrane at birth. Numerous causative genes have been demonstrated to be responsible for ARCI including PNPLA1 which can cause ARCI type 10. The objectives of this study are to describe...

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PMID: 31833240
DOI: 10.1002/mgg3.1076
PMCID: PMC7005637

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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