Article
Progressive brain atrophy in Schinzel-Giedion syndrome with a SETBP1 mutation.
European journal of medical genetics - 1 Aug 2015
Takeuchi Akihito, Okamoto Nobuhiko, Fujinaga Shoko, Morita Hirosuke, Shimizu Junya, Akiyama Tomoyuki, Ninomiya Shinsuke, Takanashi Jun-ichi, Kubo Toshihide
Abstract excerpt
Schinzel-Giedion syndrome is a rare congenital malformation syndrome. Recently, SETBP1 was identified as the causative gene. Herein, we present a Japanese boy with Schinzel-Giedion syndrome resulting from a novel mutation in SETBP1 in order to establish the clinical features and serial MRI findings associated with the syndrome. On the third day of life, the boy was referred to our hospital because of facial...
Topics
- Abnormalities, Multiple
- Atrophy
- Brain
- Carrier Proteins
- Craniofacial Abnormalities
- Disease Progression
- Exons
- Gene Expression
- Hand Deformities, Congenital
- Heterozygote
- Humans
- Infant, Newborn
- Intellectual Disability