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Article

Clinical and genetic aspects of craniofrontonasal syndrome: towards resolving a genetic paradox.

Molecular genetics and metabolism - 1 Jan 2000

Wieacker Peter, Wieland Ilse

Abstract excerpt

Craniofrontonasal syndrome (CFNS) is characterized by body asymmetry, midline defects, skeletal abnormalities, and dermatological abnormalities. It is a very peculiar X-linked syndrome because females are affected whereas male carriers show no or only mild abnormalities. Using a combination of positional approach and candidate gene strategy the EFNB1 gene in Xq12 was identified as the major causative gene of this...

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Identifiers

PMID: 16143553
DOI: 10.1016/j.ymgme.2005.07.017

Genes

EFNB1

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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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