Article
The face of Noonan syndrome: Does phenotype predict genotype.
American journal of medical genetics. Part A - 1 Aug 2010
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
Abstract excerpt
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 RAF1 mutations, and 17 KRAS mutations. The facial appearance of each person was judged to be typical of Noonan...
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