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Article

Clinical and molecular characterization of craniofrontonasal syndrome: new symptoms and novel pathogenic variants in the EFNB1 gene.

Orphanet journal of rare diseases - 26 Jun 2021

Bukowska-Olech Ewelina, Gawliński Paweł, Jakubiuk-Tomaszuk Anna, Jędrzejowska Maria, Obersztyn Ewa, Piechota Michał, Bielska Marta, Jamsheer Aleksander

Abstract excerpt

BACKGROUND: Craniofrontonasal syndrome (CFNS) is a rare X-linked disorder that results from pathogenic variants in the EFNB1 gene. The syndrome paradoxically presents with greater severity of the symptoms in heterozygous females than hemizygous males. RESULTS: We have recruited and screened a female cohort affected with CFNS. Our primary finding was the description of monozygotic twins, i.e., patients 5 and 6,...

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Identifiers

PMID: 34174922
DOI: 10.1186/s13023-021-01914-1
PMCID: PMC8236199

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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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