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Sofia Ygberg
Sofia Ygberg

Public Documents 1
Expanding the phenotype of the truncating eIF2 pathogenic variant p.(Ile465Serfs*4)...
Sofia Ygberg
Anna Lindstrand

Sofia Ygberg

and 1 more

December 23, 2021
We describe two brothers with a truncating variant in EIF2S3 and expand the phenotypic description of MEHMO. Our cases had the previously described facial dysmorphic features, severe microcephaly, hypoglycaemia, hypothyreosis, epilepsy, hypertonus, obesity, micropenis and death due to multiorgan failure. Additionally, we describe hypothermia and reduced umbilical blood flow.

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