MEHMO syndrome is a novel X-linked retardation syndrome associated with neonatal hypoglycaemia, hypopituitarism and early onset diabetes mellitus

ey0015.2-8 | MEHMO syndrome is a novel X-linked retardation syndrome associated with neonatal hypoglycaemia, hypopituitarism and early onset diabetes mellitus | ESPEYB15

MEHMO syndrome is an X-linked mental retardation syndrome associated with neonatal hypoglycaemia, hypopituitarism and early onset diabetes mellitus

J Stanik , M Skopkova , D Stanikova , K Brennerova , L Barak , L Ticha , J Hornova , I Klimes , D Gasperikova

To read the full abstract: Physiol Res. 2018 May 4;67(2):331-337See Comment under 2.10...

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ey0015.2-9 | MEHMO syndrome is a novel X-linked retardation syndrome associated with neonatal hypoglycaemia, hypopituitarism and early onset diabetes mellitus | ESPEYB15

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

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

To read the full abstract: Hum Mutat 2017 Apr;38(4):409-425See Comment under 2.10...

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ey0015.2-10 | MEHMO syndrome is a novel X-linked retardation syndrome associated with neonatal hypoglycaemia, hypopituitarism and early onset diabetes mellitus | ESPEYB15

2.10 Two novel EIF2S3 mutations associated with syndromic intellectual disability with severe microcephaly, growth retardation, and epilepsy

S Moortgat , J Désir , V Benoit , S Boulanger , H Pendeville , MC Nassogne , D Lederer , I Maystadt

To read the full abstract: Am J Med Genet A. 2016 Nov;170(11):2927-2933The vast majority of proteins that a cell secretes or displays on its surface first enter the endoplasmic reticulum (ER), where they fold and assemble. Only properly assembled proteins advance from the ER to the cell surface. The ER coordinates protein biosynthetic and secretory activities in the cell. Alterations in ER homeost...

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ESPE Yearbook of Paediatric Endocrinology

Yearbook of Paediatric Endocrinology 2018

2 Antenatal and Neonatal Endocrinology

MEHMO syndrome is an X-linked mental retardation syndrome associated with neonatal hypoglycaemia, hypopituitarism and early onset diabetes mellitus

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

2.10 Two novel EIF2S3 mutations associated with syndromic intellectual disability with severe microcephaly, growth retardation, and epilepsy

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