Article
Malan syndrome (Sotos syndrome 2) in two patients with 19p13.2 deletion encompassing NFIX gene and novel NFIX sequence variant.
Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia - 1 Mar 2016
Jezela-Stanek Aleksandra, Kucharczyk Marzena, Falana Katarzyna, Jurkiewicz Dorota, Mlynek Marlena, Wicher Dorota, Rydzanicz Malgorzata, Kugaudo Monika, Cieslikowska Agata, Ciara Elzbieta, Ploski Rafal, Krajewska-Walasek Malgorzata
Abstract excerpt
BACKGROUND AND AIM: Sotos syndrome 2 (MIM #614753), known also as Malan syndrome, is caused by heterozygous mutations/deletions of the NFIX gene located on chromosome 19p13.2. It manifests in developmental delay, intellectual impairment, macrocephaly, central nervous system anomalies, postnatal overgrowth, and craniofacial dysmorphism. Unusual behavior with/without autistic traits, ophthalmologic,...
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