WNT5A Mutations in Patients with Autosomal Dominant Robinow Syndrome

Robinow syndrome is a skeletal dysplasia with both autosomal dominant and autosomal recessive inheritance patterns. It is characterized by short stature, limb shortening, genital hypoplasia and craniofacial abnormalities. The etiology of dominant Robinow syndrome is unknown, however the phenotypical...

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Autores principales: Person, Anthony D., Beiraghi, Soraya, Sieben, Christine M., Hermanson, Spencer, Neumann, Ann N., Robu, Mara E., Schleiffarth, J. Robert, Billington, Charles J., van Bokhoven, Hans, Hoogeboom, J., Mazzeu, Juliana F., Petryk, Anna, Schimmenti, Lisa A., Brunner, Han G., Ekker, Stephen C., Lohr, Jamie L.
Formato: Artigo
Lenguaje:Inglês
Publicado: 2010
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4059519/
https://ncbi.nlm.nih.gov/pubmed/19918918
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/dvdy.22156
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