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Article

Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucoma.

Orphanet journal of rare diseases - 2 Aug 2016

Mauri Lucia, Uebe Steffen, Sticht Heinrich, Vossmerbaeumer Urs, Weisschuh Nicole, Manfredini Emanuela, Maselli Edoardo, Patrosso Mariacristina, Weinreb Robert N, Penco Silvana, Reis André, Pasutto Francesca

Abstract excerpt

BACKGROUND: Primary congenital glaucoma (PCG) and early onset glaucomas are one of the major causes of children and young adult blindness worldwide. Both autosomal recessive and dominant inheritance have been described with involvement of several genes including CYP1B1, FOXC1, PITX2, MYOC and PAX6. However, mutations in these genes explain only a small fraction of cases suggesting the presence of further...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 27484908
DOI: 10.1186/s13023-016-0495-y
PMCID: PMC4970237

Genes

FOXC1
MYOC
PAX6
PITX2

Variants

Provenance

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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