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Phenotypic Spectrum of PIEZO2 Mutations (Marden-Walker Syndrome, Gordon Syndrome, Distal Arthrogryposis Type 5)

Specialty:

Genetics

Objective:

ICD-10:

Description:

There are 3 main syndromic phenotypes associated with PIEZO2 mutations. McMillan et al studied the overlap between these phenotypes that result in intermediate expressions. The authors are from multiple institutions from around the world.

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