MEHMO syndrome and the link between brain, pituitary and pancreas
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DOI: 10.1016/j.ebiom.2019.03.086
Abstract: In 1998, Steinmuller et al. described a previously unrecognized synhemizygous missense variant c.1294C N T in EIF2S3 (p.Pro432Ser) in drome featuring mental retardation, epileptic seizures, hypogonadism, microcephaly, and obesity (MEHMO syndrome; MIM 300148) and mapped… read more here.
Keywords: hypoglycaemia; mehmo; link brain; brain pituitary ... See more keywords