adenine has been researched along with Noonan Syndrome in 1 studies
Noonan Syndrome: A genetically heterogeneous, multifaceted disorder characterized by short stature, webbed neck, ptosis, skeletal malformations, hypertelorism, hormonal imbalance, CRYPTORCHIDISM, multiple cardiac abnormalities (most commonly including PULMONARY VALVE STENOSIS), and some degree of INTELLECTUAL DISABILITY. The phenotype bears similarities to that of TURNER SYNDROME that occurs only in females and has its basis in a 45, X karyotype abnormality. Noonan syndrome occurs in both males and females with a normal karyotype (46,XX and 46,XY). Mutations in a several genes (PTPN11, KRAS, SOS1, NF1 and RAF1) have been associated the NS phenotype. Mutations in PTPN11 are the most common. LEOPARD SYNDROME, a disorder that has clinical features overlapping those of Noonan Syndrome, is also due to mutations in PTPN11. In addition, there is overlap with the syndrome called neurofibromatosis-Noonan syndrome due to mutations in NF1.
| Excerpt | Relevance | Reference |
|---|---|---|
| "Noonan syndrome is a well-known clinical entity comprising multiple congenital anomalies characterized by typical facial features, short stature and congenital heart defect." | 1.32 | Genetics and variation in phenotype in Noonan syndrome. ( Jongmans, M; Noordam, K; Otten, B; van der Burgt, I, 2004) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 1 (100.00) | 29.6817 |
| 2010's | 0 (0.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Jongmans, M | 1 |
| Otten, B | 1 |
| Noordam, K | 1 |
| van der Burgt, I | 1 |
1 other study available for adenine and Noonan Syndrome
| Article | Year |
|---|---|
Genetics and variation in phenotype in Noonan syndrome.
Topics: Adenine; Adult; Child; Cytosine; Exons; Female; Genetic Variation; Genotype; Guanine; Humans; Infant | 2004 |