A homozygous <i>IER3IP1</i> mutation causes microcephaly with simplified gyral pattern, epilepsy, and permanent neonatal diabetes syndrome (MEDS)
Abstract Wolcott–Rallison syndrome (WRS) and the recently delineated microcephaly with simplified gyration, epilepsy, and permanent neonatal diabetes syndrome (MEDS) are clinically overlapping autosomal recessive disorders characterized by early onset diabetes, skeletal defects, and growth retardati...
Wedi'i Gadw mewn:
| Prif Awduron: | , , , , , , |
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| Fformat: | Artigo |
| Iaith: | Saesneg |
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2012
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| Mynediad Ar-lein: | https://doi.org/10.1002/ajmg.a.35583 https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ajmg.a.35583 |
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