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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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| Publicado en: | Endocrinol Diabetes Metab Case Rep |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
Bioscientifica Ltd
2018
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| Assuntos: | |
| Acceso en liña: | 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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