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Endocrine Abnormalities in Townes–Brocks Syndrome
Townes–Brocks syndrome is a recognizable variable pattern of malformation caused by mutations to the SALL1 gene located on chromosome 16q12.1. Only three known cases of Townes–Brocks syndrome with proven SALL1 gene mutation and concurrent endocrine abnormalities have been previously documented to ou...
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| Опубликовано в: : | Am J Med Genet A |
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| Главные авторы: | , , , , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
2013
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5094807/ https://ncbi.nlm.nih.gov/pubmed/23894113 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.36104 |
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