Grouping of Multiple-Lentigines/LEOPARD and Noonan Syndromes on the PTPN11 Gene
نویسندگان
چکیده
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...
متن کاملHotspots 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...
متن کاملLETTER 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...
متن کاملthe effects of multiple intelligences (focus on musical, visual, and linguistic) and direct instruction on learning grammar: a case on iranian efl students at elementary level
1.0 overview it seems that grammar plays a crucial role in the area of second and foreign language learning and widely has been acknowledged in grammar research. in other words, teaching grammar is an issue which has attracted much attention to itself, and a lot of teachers argue about the existence of grammar in language teaching and learning. this issue will remind us a famous sentence f...
on translation of phatic communion and socio-cultural relationships between the characters of the novels
phatic communion is a cultural concept which differs across cultures. according to hofstede (2001), the u.s. tends to have individualistic culture; however, asian countries tend to have collectivistic cultures. these cultures view phatic communion differently. in individualistic cultures like u.s., phatic communion reflects speakers’ socio-cultural relationships in conversations. to see whether...
15 صفحه اولذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: The American Journal of Human Genetics
سال: 2002
ISSN: 0002-9297
DOI: 10.1086/341528