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Syndromic disorder of sex development due to a novel hemizygous mutation in the carboxyl-terminal domain of ATRX
Alpha-thalassemia/mental retardation syndrome X-linked (ATRX; OMIM #301040), which is caused by mutations in the ATRX gene, is characterized by alpha-thalassemia, distinct dysmorphic facies, psychomotor development delay and genital abnormalities. Here, we describe a neonatal case of syndromic disor...
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| Pubblicato in: | Hum Genome Var |
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| Autori principali: | , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Nature Publishing Group
2017
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5389957/ https://ncbi.nlm.nih.gov/pubmed/28446958 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2017.12 |
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