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Article

Case report of fetus with Lowe syndrome: Expanding the prenatal phenotype.

Prenatal diagnosis - 1 May 2024

Burrill Natalie, Khalek Nahla, Oliver Edward R, Linn Rebecca, Victoria Teresa, Yates Carin, Moldenhauer Julie S

Abstract excerpt

Oculocerebrorenal syndrome (Lowe syndrome) is a rare X-linked disorder affecting 1/500,000 males that most frequently affects the eyes, central nervous system, and kidneys. Phenotypic presentation includes congenital cataracts, developmental delay, intellectual disability, and Fanconi-type renal dysfunction. Lowe Syndrome is caused by hemizygous loss of function variants in the OCRL gene. While individuals may...

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Identifiers

PMID: 38554254
DOI: 10.1002/pd.6563

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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.

Related research

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Case report of fetus with Lowe syndrome: Expanding the prenatal phenotype.PMID 38554254Read ↗

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Characterization of 28 novel patients expands the mutational and phenotypic spectrum of Lowe syndrome.Semantic proximity Read ↗

The oculocerebrorenal syndrome of Lowe: an update.Semantic proximity Read ↗

[Clinical and genetic analysis of an infant with Lowe syndrome caused by exonic duplication of OCRL gene].Semantic proximity Read ↗

Novel pathogenic OCRL mutations and genotype-phenotype analysis of Chinese children affected by oculocerebrorenal syndrome: two cases and a literature review.Semantic proximity Read ↗

Carrier assessment in families with lowe oculocerebrorenal syndrome: novel mutations in the OCRL1 gene and correlation of direct DNA diagnosis with ocular examination.Semantic proximity Read ↗

Novel mutation of OCRL1 in Lowe syndrome.Semantic proximity Read ↗

[Clinical findings in a patient with Lowe syndrome and a splice site mutation in the OCRL1 gene].Semantic proximity Read ↗

A premature termination mutation in a patient with Lowe syndrome without congenital cataracts: dropping the "O" in OCRL.Semantic proximity Read ↗

[Analysis of OCRL gene variant in a Chinese pedigree affected with Lowe syndrome].Semantic proximity Read ↗

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