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Article

A novel dysmorphic syndrome with open calvarial sutures and sutural cataracts maps to chromosome 14q13-q21.

Human genetics - 1 Jul 2003

Boyadjiev Simeon A, Justice Cristina M, Eyaid Wafaa, McKusick Victor A, Lachman Ralph S, Chowdry Arnab B, Jabak Monzer, Zwaan Johan, Wilson Alexander F, Jabs Ethylin Wang

Abstract excerpt

We describe a new dysmorphic syndrome in an inbred Saudi Arabian family with 21 members. Five males and one female have similar craniofacial features including wide open calvarial sutures with large and late-closing anterior fontanels, frontal bossing, hyperpigmentation with capillary hemangioma of the forehead, significant hypertelorism, and a broad and prominent nose. In addition, these individuals have...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 12677423
DOI: 10.1007/s00439-003-0932-6

Genes

PAX9

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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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