hrp0084p3-903 | Fat | ESPE2015
Stanik Juraj
, Skopkova Martina
, Stanikova Daniela
, Ukropec Jozef
, Danis Daniel
, Kurdiova Timea
, Ukropcova Barbara
, Ticha Lubica
, Klimes Iwar
, Gasperikova Daniela
Background: MEHMO (microcephaly, epilepsy, hypogenitalism, mental retardation, obesity) is a rare disorder with X-linked inheritance. Only three families with this disorder were described previously, with the linkage to a region on X chromosome. No specific gene has been identified so far.Aims and objectives: The aim was to identify the genetic etiology in two unrelated Slovak male probands (4.5 and 1.5 years old respectively) with the clinical diagnosis...