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Adams oliver syndrome: A family with extreme variability in clinical expression

✍ Scribed by Bamforth, J. S. ;Kaurah, P. ;Byrne, J. ;Ferreira, P.


Publisher
John Wiley and Sons
Year
1994
Tongue
English
Weight
368 KB
Volume
49
Category
Article
ISSN
0148-7299

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Clinical variability in a Noonan syndrom
✍ Bertola, DοΏ½bora Romeo ;Pereira, Alexandre C. ;Oliveira, Paulo S.L. de ;Kim, Chon πŸ“‚ Article πŸ“… 2004 πŸ› John Wiley and Sons 🌐 English βš– 184 KB πŸ‘ 2 views

## Abstract Noonan syndrome (NS) is an autosomal dominant disorder comprising short stature, facial dysmorphism, short and/or webbed neck, heart defects, and cryptorchidism in males. The gene responsible for the disorder (__PTPN11__) was recently identified, and explains 30–50% of the cases clinica