Cancer in Noonan, Costello, cardiofaciocutaneous and LEOPARD syndromes
نویسندگان
چکیده
منابع مشابه
Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes.
N oonan syndrome (MIM 163950), an autosomal dominant disorder with an estimated prevalence of 1/1000– 2500 at birth, is characterised by short stature, facial anomalies, pterygium colli, and congenital heart disease. 2 Although pulmonary valve stenosis with dysplastic leaflets, hypertrophic cardiomyopathy, and atrial septal defects (ASD) are the most common congenital heart defects in Noonan sy...
متن کاملTegumentary manifestations of Noonan and Noonan-related syndromes
OBJECTIVES Noonan and Noonan-related syndromes are common autosomal dominant disorders with neuro-cardio-facial-cutaneous and developmental involvement. The objective of this article is to describe the most relevant tegumentary findings in a cohort of 41 patients with Noonan or Noonan-related syndromes and to detail certain aspects of the molecular mechanisms underlying ectodermal involvement. ...
متن کاملLETTER TO JMG Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes
N oonan syndrome (MIM 163950), an autosomal dominant disorder with an estimated prevalence of 1/1000– 2500 at birth, is characterised by short stature, facial anomalies, pterygium colli, and congenital heart disease. 2 Although pulmonary valve stenosis with dysplastic leaflets, hypertrophic cardiomyopathy, and atrial septal defects (ASD) are the most common congenital heart defects in Noonan sy...
متن کاملShp2 Knockdown and Noonan/LEOPARD Mutant Shp2–Induced Gastrulation Defects
Shp2 is a cytoplasmic protein-tyrosine phosphatase that is essential for normal development. Activating and inactivating mutations have been identified in humans to cause the related Noonan and LEOPARD syndromes, respectively. The cell biological cause of these syndromes remains to be determined. We have used the zebrafish to assess the role of Shp2 in early development. Here, we report that mo...
متن کامل[Cardiofaciocutaneous syndrome, a Noonan syndrome related disorder: clinical and molecular findings in 11 patients].
OBJECTIVES To describe 11 patients with cardiofaciocutaneous syndrome (CFC) and compare them with 130 patients with other RAS-MAPK syndromes (111 Noonan syndrome patients [NS] and 19 patients with LEOPARD syndrome). PATIENTS AND METHODS Clinical data from patients submitted for genetic analysis were collected. Bidirectional sequencing analysis of PTPN11, SOS1, RAF1, BRAF, and MAP2K1 focused o...
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ژورنال
عنوان ژورنال: American Journal of Medical Genetics Part C: Seminars in Medical Genetics
سال: 2011
ISSN: 1552-4868
DOI: 10.1002/ajmg.c.30300