The face of Noonan syndrome: Does phenotype predict genotype

The facial photographs of 81 individuals with Noonan syndrome, from infancy to adulthood, have been evaluated by two dysmorphologists (JA and MZ), each of whom has considerable experience with disorders of the Ras/MAPK pathway. Thirty‐two of this cohort have PTPN11 mutations, 21 SOS1 mutations, 11 R...

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Veröffentlicht in:	American journal of medical genetics. Part A 2010-08, Vol.152A (8), p.1960-1966
Hauptverfasser:	Allanson, Judith E., Bohring, Axel, Dörr, Helmuth-Guenther, Dufke, Andreas, Gillessen-Kaesbach, Gabrielle, Horn, Denise, König, Rainer, Kratz, Christian P., Kutsche, Kerstin, Pauli, Silke, Raskin, Salmo, Rauch, Anita, Turner, Anne, Wieczorek, Dagmar, Zenker, Martin
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple Adolescent Adult Biological and medical sciences Child Child, Preschool Diseases of the osteoarticular system facial phenotype Female Genotype genotype-phenotype correlation Humans Infant KRAS Male Malformations and congenital and or hereditary diseases involving bones. Joint deformations Medical genetics Medical sciences Mutation - genetics Noonan syndrome Noonan Syndrome - diagnosis Noonan Syndrome - genetics Phenotype Protein Tyrosine Phosphatase, Non-Receptor Type 11 - genetics Proto-Oncogene Proteins - genetics Proto-Oncogene Proteins c-raf - genetics Proto-Oncogene Proteins p21(ras) PTPN11 RAF1 ras Proteins - genetics SOS1 SOS1 Protein - genetics Syndrome Young Adult
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