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A novel syndrome of Klippel-Feil anomaly, myopathy, and characteristic facies is linked to a null mutation in MYO18B
Anas M Alazami, Amal Y Kentab, Eissa Faqeih, Jawahir Y Mohamed, Hisham Alkhalidi, Hadia Hijazi, Fowzan S Alkuraya

Journal of Medical Genetics Jun 2015, 52 (6) 400-404; DOI: 10.1136/jmedgenet-2014-102964

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