Clinical variability in a Noonan syndrom
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Bertola, DοΏ½bora Romeo ;Pereira, Alexandre C. ;Oliveira, Paulo S.L. de ;Kim, Chon
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Article
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2004
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John Wiley and Sons
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English
β 184 KB
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## 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 30β50% of the cases clinica