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SHOUKIER , Moneef

Last name: SHOUKIER

First name: Moneef

2018 (v1)

Publication

Metadata-only

A novel pathogenic MYH3 mutation in a child with Sheldon–Hall syndrome and vertebral fusions

Scala, Marcello Accogli, Andrea De Grandis, Elisa

Sheldon–Hall syndrome (SHS) is the most common of the distal arthrogryposes (DAs), a group of disorders characterized by congenital non-progressive contractures. Patients with SHS present with contractures of the limbs and a distinctive triangular facies with prominent nasolabial folds. Calcaneovalgus deformity is frequent, as well as...

Uploaded on: April 14, 2023