ESPE Yearbook of Paediatric Endocrinology

ESPEYB15 2 Antenatal and Neonatal Endocrinology MEHMO syndrome is a novel X-linked retardation syndrome associated with neonatal hypoglycaemia, hypopituitarism and early onset diabetes mellitus (3 abstracts)

2.9 EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO

Skopkova M , Hennig F , Shin BS , Turner CE , Stanikova D , Brennerova K , Stanik J , Fischer U , Henden L , Müller U , Steinberger D , Leshinsky-Silver E , Bottani A , Kurdiova T , Ukropec J , Nyitrayova O , Kolnikova M , Klimes I , Borck G , Bahlo M , Haas SA , Kim JR , Lotspeich-Cole LE , Gasperikova D , Dever TE & Kalscheuer VM