Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome

Valérie Cormier-Daire and colleagues report the identification of mutations in SMAD4 that cause Myhre syndrome, a developmental disorder characterized by short stature, short hands and feet, facial dysmorphism, muscular hypertrophy, deafness and cognitive delay. All of the mutations alter a single c...

Ausführliche Beschreibung