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Article

Congenital cataract with LSS gene mutations: a new case report.

Journal of pediatric endocrinology & metabolism : JPEM - 26 Oct 2017

Chen Xiaodan, Liu Li

Abstract excerpt

BACKGROUND: Congenital cataract is one of the major causes of blindness and amblyopia in children. About one-third of the cases are inherited. CASE PRESENTATION: We applied whole exome sequencing for a pediatric patient with congenital cataract, small penis, baldness and absence of eyebrows and detected a compound heterozygous mutation in the lanosterol synthase (LSS) gene. These two mutations were inherited from...

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Identifiers

PMID: 29016354
DOI: 10.1515/jpem-2017-0101

Genes

LSS

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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