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A novel EFNB1 mutation (c.712delG) in a family with craniofrontonasal syndrome and diaphragmatic hernia

✍ Scribed by Jacob Hogue; Suma Shankar; Hazel Perry; Reena Patel; Karin Vargervik; Anne Slavotinek


Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
148 KB
Volume
152A
Category
Article
ISSN
1552-4825

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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