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Article

A novel syndrome of Klippel-Feil anomaly, myopathy, and characteristic facies is linked to a null mutation in MYO18B.

Journal of medical genetics - 1 Jun 2015

Alazami Anas M, Kentab Amal Y, Faqeih Eissa, Mohamed Jawahir Y, Alkhalidi Hisham, Hijazi Hadia, Alkuraya Fowzan S

Abstract excerpt

BACKGROUND: Klippel-Feil anomaly (KFA) can be seen in a number of syndromes. We describe an apparently novel syndromic association with KFA. METHODS: Clinical phenotyping of two consanguineous families followed by combined autozygome/exome analysis. RESULTS: Two patients from two apparently unrelated families shared a strikingly similar phenotype characterised by KFA, myopathy, mild short stature, microcephaly,...

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PMID: 25748484
DOI: 10.1136/jmedgenet-2014-102964

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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