Article
Further delineation of MYO18B-related autosomal recessive Klippel-Feil syndrome with myopathy and facial dysmorphism.
American journal of medical genetics. Part A - 1 Feb 2021
Altuame Fadie D, Haldeman-Englert Chad, Cupler Edward, Al Muhaizea Mohammad A, Al-Zaidan Hamad I, Hashem Mais, Alkuraya Fowzan S
Abstract excerpt
Klippel-Feil syndrome 4 (KFS4; MIM# 616549) is an autosomal recessive disorder caused by biallelic pathogenic variants in MYO18B and comprises, in addition to Klippel-Feil anomaly (KFA), nemaline myopathy, facial dysmorphism, and short stature. We aim to outline the natural history of KFS4 and provide an updated description of its clinical, radiological, laboratory, and molecular findings. We comprehensively...
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