Article
Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome.
American journal of medical genetics. Part A - 1 Feb 2015
Gripp Karen W, Robbins Katherine M, Sobreira Nara L, Witmer P Dane, Bird Lynne M, Avela Kristiina, Makitie Outi, Alves Daniela, Hogue Jacob S, Zackai Elaine H, Doheny Kimberly F, Stabley Deborah L, Sol-Church Katia
Abstract excerpt
Lateral meningocele syndrome (LMS, OMIM%130720), also known as Lehman syndrome, is a very rare skeletal disorder with facial anomalies, hypotonia and meningocele-related neurologic dysfunction. The characteristic lateral meningoceles represent the severe end of the dural ectasia spectrum and are typically most severe in the lower spine. Facial features of LMS include hypertelorism and telecanthus, high arched...
Topics
- Abnormalities, Multiple
- Child
- Child, Preschool
- DNA Mutational Analysis
- Exome
- Exons
- Facies
- High-Throughput Nucleotide Sequencing
- Humans
- Magnetic Resonance Imaging