PTPN11 mutations are not responsible for the Cardiofaciocutaneous (CFC) syndrome
- 9 January 2003
- journal article
- Published by Springer Nature in European Journal of Human Genetics
- Vol. 11 (1) , 64-68
- https://doi.org/10.1038/sj.ejhg.5200911
Abstract
No abstract availableKeywords
This publication has 16 references indexed in Scilit:
- Grouping of Multiple-Lentigines/LEOPARD and Noonan Syndromes on the PTPN11 GeneAmerican Journal of Human Genetics, 2002
- CFC index for the diagnosis of cardiofaciocutaneous syndromeAmerican Journal of Medical Genetics, 2002
- Mice mutant for Egfr and Shp2 have defective cardiac semilunar valvulogenesisNature Genetics, 2000
- Fine mapping of Noonan/cardio-facio cutaneous syndrome in a large familyEuropean Journal of Human Genetics, 1998
- Retinitis pigmentosa in a young man with Noonan syndrome: Further evidence that Noonan syndrome (NS) and the cardio-facio-cutaneous syndrome (CFC) are variable manifestations of the same entity?American Journal of Medical Genetics, 1996
- Are cardio-facio-cutaneous syndrome and Noonan syndrome distinct? A case of CFC offspring of a mother with Noonan syndromeClinical Dysmorphology, 1996
- Mapping a gene for Noonan syndrome to the long arm of chromosome 12Nature Genetics, 1994
- The Noonan-CFC controversyAmerican Journal of Medical Genetics, 1991
- The cardio-facio-cutaneous (CFC) syndrome and Noonan syndrome: Are they the same?American Journal of Medical Genetics, 1991
- New multiple congenital anomalies/mental retardation syndrome with cardio‐facio‐cutaneous involvement—the CFC syndromeAmerican Journal of Medical Genetics, 1986