Grouping of Multiple-Lentigines/LEOPARD and Noonan Syndromes on the PTPN11 Gene

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منابع مشابه

Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes.

N oonan syndrome (MIM 163950), an autosomal dominant disorder with an estimated prevalence of 1/1000– 2500 at birth, is characterised by short stature, facial anomalies, pterygium colli, and congenital heart disease. 2 Although pulmonary valve stenosis with dysplastic leaflets, hypertrophic cardiomyopathy, and atrial septal defects (ASD) are the most common congenital heart defects in Noonan sy...

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Hotspots in PTPN11 Gene Among Indian Children With Noonan Syndrome.

OBJECTIVE To test for PTPN11 mutations in clinically diagnosed cases of Noonan syndrome. METHODS 17 individuals with clinical diagnosis of Noonan syndrome were included in the study. Sanger sequencing of all the 15 exons of PTPN11 was done. A genotype-phenotype correlation was attempted. RESULTS Mutation in PTPN11 was detected in 11 out of 17 (64.7%) patients with Noonan syndrome; 72% had m...

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LETTER TO JMG Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes

N oonan syndrome (MIM 163950), an autosomal dominant disorder with an estimated prevalence of 1/1000– 2500 at birth, is characterised by short stature, facial anomalies, pterygium colli, and congenital heart disease. 2 Although pulmonary valve stenosis with dysplastic leaflets, hypertrophic cardiomyopathy, and atrial septal defects (ASD) are the most common congenital heart defects in Noonan sy...

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ژورنال

عنوان ژورنال: The American Journal of Human Genetics

سال: 2002

ISSN: 0002-9297

DOI: 10.1086/341528