Ontology highlight
ABSTRACT:
SUBMITTER: Wang Y
PROVIDER: S-EPMC3427010 | biostudies-literature | 2012 Aug
REPOSITORIES: biostudies-literature
Wang Yuan Y Kim Edward E Wang Xiaojing X Novitch Bennett G BG Yoshikawa Kazuaki K Chang Long-Sheng LS Zhu Yuan Y
Cell 20120801 4
Germline mutations in the RAS/ERK signaling pathway underlie several related developmental disorders collectively termed neuro-cardio-facial-cutaneous (NCFC) syndromes. NCFC patients manifest varying degrees of cognitive impairment, but the developmental basis of their brain abnormalities remains largely unknown. Neurofibromatosis type 1 (NF1), an NCFC syndrome, is caused by loss-of-function heterozygous mutations in the NF1 gene, which encodes neurofibromin, a RAS GTPase-activating protein. Her ...[more]