Further report of MEDS syndrome: Clinical and molecular delineation of a new Tunisian case.
Rjiba K, Soyah N, Kammoun M, Hadj Hmida I, Saad A, Mcelreavey K, Mougou-Zerelli S.
Rjiba K, et al.
Eur J Med Genet. 2021 Sep;64(9):104285. doi: 10.1016/j.ejmg.2021.104285. Epub 2021 Jul 3.
Eur J Med Genet. 2021.
PMID: 34229114
Exome sequencing identified a homozygous missense variant (c.62 T > G; p. Val21Gly) in the IER3IP1 gene, that is predicted to alter the protein structure within the hydrophobic/transmembrane. ...
Exome sequencing identified a homozygous missense variant (c.62 T > G; p. Val21Gly) in the IER3IP1 gene, that is predicted to alte …