Phenotypic Variability in a Family with Acrodysostosis Type 2 Caused by a Novel PDE4D Mutation Affecting the Serine Target of Protein Kinase-A Phosphorylation

Acrodysostosis is a very rare congenital multisystem condition characterized by skeletal dysplasia with severe brachydactyly, midfacial hypoplasia, and short stature, varying degrees of intellectual disability, and possible resistance to multiple G protein-coupled receptor signalling hormones. Two d...

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Detalhes bibliográficos
Publicado no:J Clin Res Pediatr Endocrinol
Main Authors: Hoppmann, Julia, Gesing, Julia, Silve, Caroline, Leroy, Chrystel, Bertsche, Astrid, Hirsch, Franz Wolfgang, Kiess, Wieland, Pfäffle, Roland, Schuster, Volker
Formato: Artigo
Idioma:Inglês
Publicado em: Galenos Publishing 2017
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5785644/
https://ncbi.nlm.nih.gov/pubmed/28515031
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4274/jcrpe.4488
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