1. Biology Dictionary
  2. Myhre syndrome

Myhre syndrome

Definition:

Myhre syndrome (MYHRS) is a developmental disorder characterized by reduced growth, generalized muscular hypertrophy, facial dysmorphism, deafness, cognitive deficits, joint stiffness, and skeletal anomalies. Heterozygous missense mutations in SMAD4 cause this disease. SMAD4 plays a pivotal role in the bone morphogenetic pathway and TGF-beta signaling.

Biomedical Dictionary

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