Lumping of CFC and Baraitser-Patton Noonan-Like syndromes
โ Scribed by Verloes, Alain ;Merrer, Martine Le
- Publisher
- John Wiley and Sons
- Year
- 1992
- Tongue
- English
- Weight
- 65 KB
- Volume
- 42
- Category
- Article
- ISSN
- 0148-7299
No coin nor oath required. For personal study only.
๐ SIMILAR VOLUMES
Noonan syndrome (NS) is among the most common nonchromosomal disorders affecting development and growth. NS is genetically heterogeneous, being caused by germline mutations affecting various genes implicated in the RAS signaling network. This network transduces extracellular signals into intracellul
W e report on a young man with Noonan syndrome (NS) and retinitis pigmentosa. As far as we know, retinitis pigmentosa has not been reported in NS. However, in the 3 cardio-facio-cutaneous syndrome (CFC) patients in whom electroretinographic studies were performed, retinal anomalies have been found.