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Article

Mapping of a novel type III variant of Knobloch syndrome (KNO3) to chromosome 17q11.2.

American journal of medical genetics. Part A - 1 Dec 2007

Khaliq Shagufta, Abid Aiysha, White Dominick R A, Johnson Colin A, Ismail Muhammad, Khan Ayesha, Ayub Qasim, Sultana Salma, Maher Eamonn R, Mehdi Syed Qasim

Abstract excerpt

Knobloch syndrome (KNO) is an autosomal recessive disorder characterized by ocular abnormalities (myopia and retinal detachment) and occipital encephalocele. The syndrome is clinically and genetically heterogeneous (KNO1, KNO2). Previously germline mutations in COL18A1 (21q22.3) were detected in some families, but in other kindreds linkage to COL18A1 was excluded. We ascertained a large consanguineous family with...

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Identifiers

PMID: 17975799
DOI: 10.1002/ajmg.a.31739

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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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Mapping of a novel type III variant of Knobloch syndrome (KNO3) to chromosome 17q11.2.PMID 17975799Read ↗

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A gene which causes severe ocular alterations and occipital encephalocele (Knobloch syndrome) is mapped to 21q22.3Semantic proximity Read ↗

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