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
Autores principales: Mahendhar, Rupak, Zarghamravanbakhsh, Paria, Pavlovic, Maia Natalia, Butuc, Radu, Sachmechi, Issac
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2018
Materias:
Endocrinology/Diabetes/Metabolism
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6197535/
https://www.ncbi.nlm.nih.gov/pubmed/30357083
http://dx.doi.org/10.7759/cureus.3169

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6197535/
https://www.ncbi.nlm.nih.gov/pubmed/30357083
http://dx.doi.org/10.7759/cureus.3169

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