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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Bibliografiske detaljer
Udgivet i:Endocrinol Diabetes Metab Case Rep
Main Authors: Arefzadeh, Alireza, Khalighinejad, Pooyan, Ataeinia, Bahar, Parvar, Pegah
Format: Artigo
Sprog:Inglês
Udgivet: Bioscientifica Ltd 2018
Fag:
Unique/Unexpected Symptoms or Presentations of a Disease
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6063990/
https://ncbi.nlm.nih.gov/pubmed/30087780
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1530/EDM-18-0068
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