Further report of MEDS syndrome: Clinical and molecular delineation of a new Tunisian case.
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DOI: 10.1016/j.ejmg.2021.104285
Abstract: Recently, an autosomal recessive disorder including the triad of microcephaly, infantile epileptic encephalopathy, and permanent neonatal diabetes syndrome (MEDS, OMIM#614231) has emerged as a new distinguishing syndrome. Eight cases of whom seven from Arab countries,… read more here.
Keywords: clinical molecular; meds syndrome; case; report meds ... See more keywords