Noonan-like syndrome with loose anagen hair associated with growth hormone insensitivity and atypical neurological manifestations
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.35234/fullpdf
Reference19 articles.
1. PTPN11 mutations are associated with mild growth hormone resistance in individuals with Noonan syndrome;Binder;J Clin Endocrinol Metab,2005
2. Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair;Cordeddu;Nat Genet,2009
3. The short term effects of growth hormone therapy on height velocity and cardiac ventricular wall thickness in children with Noonan's syndrome;Cotteril;J Clin Endocrinol Metab,1996
4. Tic Disorders in childhood;Dooley;Semin Pediatr Neurol,2006
5. Tourette syndrome in children: An update review;Du;Pediatr Neonatol,2010
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1. Case report: A de novo RASopathy-causing SHOC2 variant in a Chinese girl with noonan syndrome-like with loose anagen hair;Frontiers in Genetics;2022-12-09
2. Three Siblings With Woodhouse-Sakati Syndrome: A Case Report of A New Saudi Family;Cureus;2022-12-05
3. Endocrinological manifestations in RASopathies;American Journal of Medical Genetics Part C: Seminars in Medical Genetics;2022-11-19
4. Activation of the MAPK pathway (RASopathies) and partial growth hormone insensitivity;Molecular and Cellular Endocrinology;2021-01
5. ADA2 deficiency in a patient with Noonan syndrome‐like disorder with loose anagen hair: The co‐occurrence of two rare syndromes;American Journal of Medical Genetics Part A;2019-10-04
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