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Article

Molecular Karyotyping of a Dysmorphic Girl from Saudi Arabia with CYP1B1-negative Primary Congenital Glaucoma.

Ophthalmic genetics - 1 Jan 2016

Abu-Amero Khaled K, Kondkar Altaf A, Khan Arif O

Abstract excerpt

PURPOSE: To report the results of molecular karyotyping for a dysmorphic girl with CYP1B1-negative primary congenital glaucoma from Saudi Arabia, where CYPB1 mutations account for over 90% of cases of primary congenital glaucoma and the remaining cases are idiopathic. METHODS: CYP1B1 sequencing in the affected child; high-resolution array comparative genomic hybridization (array CGH) of the affected child and...

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Share to Abnormalities, Multiple
Share to Chromosome Duplication
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Cytochrome P-450 CYP1B1

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Source

Identifiers

PMID: 24911043
DOI: 10.3109/13816810.2014.924017

Genes

DTHD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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