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Article

Novel mutation of OCRL1 in Lowe syndrome.

Indian journal of pediatrics - 1 Jan 2015

Liu Ting, Yue Zhihui, Wang Haiyan, Tong Huajuan, Sun Liangzhong

Abstract excerpt

Lowe syndrome is a rare, X-linked recessive genetic disease with multi-organ involvement. The pathogenic gene is OCRL1. The authors analyzed the OCRL1 mutation and summarized the clinical features of a Chinese child with Lowe syndrome. The patient is a 3 year 7 mo-old boy. He presented with hypotonia at birth and gradually presented with bilateral congenital cataracts, psychomotor retardation, hypophosphatemic...

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Identifiers

PMID: 25297642
DOI: 10.1007/s12098-014-1581-6

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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