Familial GATA6 mutation causing variably expressed diabetes mellitus and cardiac and renal abnormalities
A 26-year-old man presented with a combination of permanent neonatal diabetes due to pancreatic aplasia, complex congenital heart disease, central hypogonadism and growth hormone deficiency, structural renal abnormalities with proteinuria, umbilical hernia, neurocognitive impairment and dysmorphic f...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Bioscientifica
2019-05-01
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| Series: | Endocrinology, Diabetes & Metabolism Case Reports |
| Online Access: | https://edm.bioscientifica.com/view/journals/edm/2019/1/EDM19-0022.xml |