Noonan Syndrome Like with Loose Anagen-1 due to SHOC2 Mutation—A Report of Two Cases from India
Author:
Affiliation:
1. Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bengaluru, Karnataka, India
2. Department of Pediatric Dermatology, Indira Gandhi Institute of Child Health, Bengaluru, Karnataka, India
Publisher
Medknow
Reference5 articles.
1. The RAS/MAPK syndromes:Novel roles of the RAS pathway in human genetic disorders;Aoki;Hum Mutat,2008
2. Hematopoietic and neural crest defects in zebrafish shoc2 mutants:A novel vertebrate model for Noonan-like syndrome;Jang;Hum Mol Genet,2019
3. Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies;Komatsuzaki;J Hum Genet,2010
4. Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair;Cordeddu;Nat Genet,2009
5. Mutation and phenotypic spectrum of patients with RASopathies;Lallar;Indian Pediatr,2021
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