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Article

A novel mutation in PRDM5 in brittle cornea syndrome.

Clinical genetics - 1 Feb 2012

Aldahmesh M A, Mohamed J Y, Alkuraya F S

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Source

Identifiers

PMID: 22122778
DOI: 10.1111/j.1399-0004.2011.01808.x

Genes

PRDM5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

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A novel mutation in PRDM5 in brittle cornea syndrome.PMID 22122778Read ↗

Mutations in PRDM5 in Brittle Cornea Syndrome Identify a Pathway Regulating Extracellular Matrix Development and MaintenanceSemantic proximity Read ↗

Case report of a PRDM5 linked brittle cornea syndrome type 2 in association with a novel SLC6A5 mutation.Semantic proximity Read ↗

Congenital glaucoma in brittle cornea syndrome type 2 with a novel mutation in PRDM5.Semantic proximity Read ↗

Identification and Management of a Novel PRDM5 Gene Pathologic Variant in a Family With Brittle Cornea Syndrome.Semantic proximity Read ↗

Identification of Mutations in the PRDM5 Gene in Brittle Cornea Syndrome.Semantic proximity Read ↗

Bruch’s membrane abnormalities in PRDM5-related brittle cornea syndromeSemantic proximity Read ↗

A new ocular phenotype associated with an unexpected but known systemic disorder and mutation: novel use of genomic diagnostics and exome sequencing.Semantic proximity Read ↗

Whole exome sequencing identifies a heterozygous missense variant in the PRDM5 gene in a family with Axenfeld–Rieger syndromeSemantic proximity Read ↗

Brittle cornea without clinically-evident extraocular findings in an adult harboring a novel homozygous ZNF469 mutation.Semantic proximity Read ↗

More than meets the eye: expanding and reviewing the clinical and mutational spectrum of brittle cornea syndromeSemantic proximity Read ↗

Novel mutation in BEST1 associated with retinoschisis.Semantic proximity Read ↗

Brittle cornea syndrome: recognition, molecular diagnosis and management.Semantic proximity Read ↗

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