Postnatal phenotype according to prenatal ultrasound features of Noonan syndrome: a retrospective study of 28 cases

Author:

Gaudineau A.1,Doray B.2,Schaefer E.2,Sananès N.1,Fritz G.1,Kohler M.3,Alembik Y.2,Viville B.1,Favre R.3,Langer B.1

Affiliation:

1. Department of Maternal and Fetal Medicine; Hautepierre University Hospital; Strasbourg France

2. Genetics Department; Hautepierre University Hospital; Strasbourg France

3. Centre Médico-Chirurgical et Obstétrical; Schiltigheim France

Publisher

Wiley

Subject

Genetics(clinical),Obstetrics and Gynaecology

Reference30 articles.

1. Associated non-cardiac malformations in children with congenital heart disease;Noonan;J Pediatr,1963

2. Hypertelorism with Turner phenotype. A new syndrome with associated congenital heart disease;Noonan;Am J Dis Child,1968

3. Noonan syndrome: a review;Mendez;Am J Med Genet,1985

4. Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome;Tartaglia;Nat Genet,2001

5. Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome;Tartaglia;Nat Genet,2007

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