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Article

The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males.

American journal of human genetics - 1 Jun 2006

Twigg Stephen R F, Matsumoto Kazuya, Kidd Alexa M J, Goriely Anne, Taylor Indira B, Fisher Richard B, Hoogeboom A Jeannette M, Mathijssen Irene M J, Lourenco M Teresa, Morton Jenny E V, Sweeney Elizabeth, Wilson Louise C, Brunner Han G, Mulliken John B, Wall Steven A, Wilkie Andrew O M

Abstract excerpt

Craniofrontonasal syndrome (CFNS) is an X-linked disorder that exhibits a paradoxical sex reversal in phenotypic severity: females characteristically have frontonasal dysplasia, craniosynostosis, and additional minor malformations, but males are usually mildly affected with hypertelorism only. Despite this, males appear underrepresented in CFNS pedigrees, with carrier males encountered infrequently compared with...

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Source

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Identifiers

PMID: 16685650
DOI: 10.1086/504440
PMCID: PMC1474108

Genes

EFNB1

Provenance

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Source receipt: pubmed, retrieved 7 Sept 2026.

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The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males.PMID 16685650Read ↗

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Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS).Semantic proximity Read ↗

Clinical and Neurodevelopmental Course in a Case of EFNB1-Related Craniofrontonasal Syndrome With Unrepaired Craniosynostosis.Semantic proximity Read ↗

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