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SUN-129 Early Onset Of MODY 5 Due To The Haploinsufficency HNF1B Gene As Part Of 17q12 Deletion
The 1.4 MB deletion in the 17q12 region causes a contiguous gene syndrome, which was recently named 17q12 Deletion Syndrome. This region encompasses the Hepatocyte Nuclear Factor 1ß gene (HNF1ß), which plays an important role in the formation of kidneys, pancreas, liver, brain and genital tract. The...
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| Опубликовано в: : | J Endocr Soc |
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| Главные авторы: | , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
Endocrine Society
2019
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6553130/ https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/js.2019-SUN-129 |
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