Brachydactyly mental retardation syndrome with growth hormone deficiency

Deletion of chromosome 2q37 results in a rare congenital syndrome known as brachydactyly mental retardation (BDMR) syndrome; a syndrome which has phenotypes similar to Albright hereditary osteodystrophy (AHO) syndrome. In this report, we describe a patient with AHO due to microdeletion in long arm o...

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Detalles Bibliográficos
Autores principales: Arefzadeh, Alireza, Khalighinejad, Pooyan, Ataeinia, Bahar, Parvar, Pegah
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bioscientifica Ltd 2018
Materias:
Unique/Unexpected Symptoms or Presentations of a Disease
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6063990/
https://www.ncbi.nlm.nih.gov/pubmed/30087780
http://dx.doi.org/10.1530/EDM-18-0068

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6063990/
https://www.ncbi.nlm.nih.gov/pubmed/30087780
http://dx.doi.org/10.1530/EDM-18-0068

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