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MYH3-Related Disorders

MedGen UID:
893406
•Concept ID:
CN239329
•
Disease or Syndrome

Recent clinical studies

Etiology

A novel pathogenic MYH3 mutation in a child with Sheldon-Hall syndrome and vertebral fusions.
Scala M, Accogli A, De Grandis E, Allegri A, Bagowski CP, Shoukier M, Maghnie M, Capra V
Am J Med Genet A 2018 Mar;176(3):663-667. Epub 2018 Jan 5 doi: 10.1002/ajmg.a.38593. PMID: 29314551

Diagnosis

A novel pathogenic MYH3 mutation in a child with Sheldon-Hall syndrome and vertebral fusions.
Scala M, Accogli A, De Grandis E, Allegri A, Bagowski CP, Shoukier M, Maghnie M, Capra V
Am J Med Genet A 2018 Mar;176(3):663-667. Epub 2018 Jan 5 doi: 10.1002/ajmg.a.38593. PMID: 29314551

Clinical prediction guides

A novel pathogenic MYH3 mutation in a child with Sheldon-Hall syndrome and vertebral fusions.
Scala M, Accogli A, De Grandis E, Allegri A, Bagowski CP, Shoukier M, Maghnie M, Capra V
Am J Med Genet A 2018 Mar;176(3):663-667. Epub 2018 Jan 5 doi: 10.1002/ajmg.a.38593. PMID: 29314551

Supplemental Content

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