A novel syndrome of Klippel-Feil anomaly, myopathy, and characteristic facies is linked to a null mutation inMYO18B

Author:

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

Publisher

BMJ

Subject

Genetics(clinical),Genetics

Reference18 articles.

1. Klippel-Feil syndrome a constellation of associated anomalies;Hensinger;J Bone Joint Surg Am,1974

2. Klippel-Feil syndrome: clinical features and current understanding of etiology;Tracy;Clin Orthop Relat Res,2004

3. Klippel-Feil syndrome and associated congenital abnormalities: evaluation of 23 cases;Mahirogullari;Acta Orthop Traumatol Turc,2004

4. Scoliosis and congenital anomalies associated with Klippel-Feil syndrome types I-III;Thomsen;Spine,1997

5. Mutations in MEOX1, encoding mesenchyme homeobox 1, cause Klippel-Feil anomaly;Mohamed;Am J Hum Genet,2013

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