High frequency of hotspot mutation in PTPN11 gene among Moroccan patients with Noonan syndrome

Noonan syndrome (NS; OMIM 163950) is an autosomal dominant RASopathy with variable clinical expression and genetic heterogeneity. Clinical manifestations include characteristic facial features, short stature, and cardiac anomalies. Variants in protein-tyrosine phosphatase, non-receptor-type 11 ( PTP...

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Bibliographic Details
Published in:	Journal of applied genetics Vol. 65; no. 2; pp. 303 - 308
Main Authors:	Ouboukss, Fatima, Adadi, Najlae, Amasdl, Saadia, Smaili, Wiam, Laarabi, Fatima Zahra, Lyahyai, Jaber, Sefiani, Abdelaziz, Ratbi, Ilham
Format:	Journal Article
Language:	English
Published:	Berlin/Heidelberg Springer Berlin Heidelberg 01-05-2024 Springer Nature B.V
Subjects:	Animal Genetics and Genomics Biomedical and Life Sciences Cdc42 protein Exons Gene sequencing Genes Genetic counseling Genetic screening Genotype & phenotype Heterogeneity High frequencies Human Genetics Human Genetics • Original Paper Life Sciences Microbial Genetics and Genomics Mutation hot spots Noonan's syndrome Phenotypes Plant Genetics and Genomics Protein-tyrosine-phosphatase SHP-2 protein Tyrosine Pathogenic variant High hotspot frequency gene Moroccan Noonan syndrome
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