Gene responsible for Carey-Fineman-Ziter Syndrome has been identified!
NIH and collaborators identify the genomic cause for Carey-Fineman-Ziter syndrome
Rare disease research uncovers new mechanism underlying muscle development
Bethesda, Maryland, Thurs., July 6, 2017 - An international team of researchers has identified genomic mutations for Carey-Fineman-Ziter (CFZS) syndrome, a very rare congenital myopathy (inherited muscle disorder) characterized by facial weakness... Read More
A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome
Nature Communications 8, Article number: 16077 (2017)
doi:10.1038/ncomms16077... Read More
Copyright Cody Hanson 2017
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to raise awareness of the syndrome and give parents, patients, and the medical
community a place to gain some answers.Contact a qualified medical professional for
proper diagnosis and treatments.