Malan syndrome (Sotos syndrome 2) in two patients with 19p13.2 deletion encompassing NFIX gene and novel NFIX sequence variant

Malan syndrome (Sotos syndrome 2) in two patients with 19p13.2 deletion encompassing NFIX gene and novel NFIX sequence variant

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 over...

Full description

Bibliographic Details
Main Authors: Aleksandra Jezela-Stanek, Marzena Kucharczyk, Katarzyna Falana, Dorota Jurkiewicz, Marlena Mlynek, Dorota Wicher, Malgorzata Rydzanicz, Monika Kugaudo, Agata Cieslikowska, Elzbieta Ciara, Rafal Ploski, Malgorzata Krajewska-Walasek
Format: Article
Language:English
Published: Palacký University Olomouc, Faculty of Medicine and Dentistry 2016-03-01
Series:Biomedical Papers
Subjects:
malan syndrome
sotos syndrome 2
nfix gene
19p13.2 deletion
nfix mutation
Online Access:https://biomed.papers.upol.cz/artkey/bio-201601-0024_Malan_syndrome_Sotos_syndrome_2_in_two_patients_with_19p13_2_deletion_encompassing_NFIX_gene_and_novel_NFIX_s.php

Internet

https://biomed.papers.upol.cz/artkey/bio-201601-0024_Malan_syndrome_Sotos_syndrome_2_in_two_patients_with_19p13_2_deletion_encompassing_NFIX_gene_and_novel_NFIX_s.php

Similar Items