Article
Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome.
Nature genetics - 11 Dec 2011
Le Goff Carine, Mahaut Clémentine, Abhyankar Avinash, Le Goff Wilfried, Serre Valérie, Afenjar Alexandra, Destrée Anne, di Rocco Maja, Héron Delphine, Jacquemont Sébastien, Marlin Sandrine, Simon Marleen, Tolmie John, Verloes Alain, Casanova Jean-Laurent, Munnich Arnold, Cormier-Daire Valérie
Abstract excerpt
Myhre syndrome (MIM 139210) is a developmental disorder characterized by short stature, short hands and feet, facial dysmorphism, muscular hypertrophy, deafness and cognitive delay. Using exome sequencing of individuals with Myhre syndrome, we identified SMAD4 as a candidate gene that contributes to this syndrome on the basis of its pivotal role in the bone morphogenetic pathway (BMP) and transforming growth...
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