Brachydactyly Mental Retardation Syndrome Diagnosed in Adulthood

Brachydactyly mental retardation syndrome (BDMR) is due to a rare, small chromosomal deletion of 2q37, and manifests with variable signs and symptoms in people who live with it. BDMR could be misdiagnosed as Albright hereditary osteodystrophy (AHO), because it presents with lack of hormone resistanc...

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Detalles Bibliográficos
Publicado en:Cureus
Main Authors: Mahendhar, Rupak, Zarghamravanbakhsh, Paria, Pavlovic, Maia Natalia, Butuc, Radu, Sachmechi, Issac
Formato: Artigo
Idioma:Inglês
Publicado: Cureus 2018
Assuntos:
Endocrinology/Diabetes/Metabolism
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC6197535/
https://ncbi.nlm.nih.gov/pubmed/30357083
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7759/cureus.3169
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