Rare variants inSOS2andLZTR1are associated with Noonan syndrome
نویسندگان
چکیده
منابع مشابه
Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome.
BACKGROUND Noonan syndrome is an autosomal dominant, multisystemic disorder caused by dysregulation of the RAS/mitogen activated protein kinase (MAPK) pathway. Heterozygous, pathogenic variants in 11 known genes account for approximately 80% of cases. The identification of novel genes associated with Noonan syndrome has become increasingly challenging, since they might be responsible for very s...
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متن کاملNoonan syndrome.
Noonan syndrome is a common autosomal dominant condition caused by multiple genes in the RasMAPK pathway. The adult phenotype can be extremely subtle, and many adults are diagnosed only after the birth of a more obviously affected child. Whether diagnosis is made in childhood or adulthood, initial and ongoing evaluation of many systems can have considerable health benefits.
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 2015
ISSN: 0022-2593,1468-6244
DOI: 10.1136/jmedgenet-2015-103018