Publication: The face of Noonan syndrome: Does phenotype predict genotype
The face of Noonan syndrome: Does phenotype predict genotype
Date
Date
Date
Citations
Allanson, J. E., Bohring, A., Dörr, H. G., Dufke, A., Gillessen-Kaesbach, G., Horn, D., König, R., Kratz, C. P., Kutsche, K., Pauli, S., Raskin, S., Rauch, A., Turner, A., Wieczorek, D., & Zenker, M. (2010). The face of Noonan syndrome: Does phenotype predict genotype. American Journal of Medical Genetics. Part A, 152A(8), 1960–1966. https://doi.org/10.1002/ajmg.a.33518
Abstract
Abstract
Abstract
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 syndrome or atypical. In each gene category both typical and unusual faces were found. We determined that some individuals with mu
Metrics
Downloads
Views
Additional indexing
Creators (Authors)
- Allanson, J E
- Bohring, A
- Dörr, H G
- Dufke, A
- Gillessen-Kaesbach, G
- Horn, D
- König, R
- Kratz, C P
- Kutsche, K
- Pauli, S
- Raskin, S
- Rauch, A
- Turner, A
- Wieczorek, D
- Zenker, M
Journal/Series Title
Journal/Series Title
Journal/Series Title
Volume
Volume
Volume
Number
Number
Number
Page range/Item number
Page range/Item number
Page range/Item number
Page end
Page end
Page end
Item Type
Item Type
Item Type
In collections
Dewey Decimal Classifikation
Dewey Decimal Classifikation
Dewey Decimal Classifikation
Language
Language
Language
Publication date
Publication date
Publication date
Date available
Date available
Date available
ISSN or e-ISSN
ISSN or e-ISSN
ISSN or e-ISSN
OA Status
OA Status
OA Status
Free Access at
Free Access at
Free Access at
Publisher DOI
Metrics
Downloads
Views
Citations
Allanson, J. E., Bohring, A., Dörr, H. G., Dufke, A., Gillessen-Kaesbach, G., Horn, D., König, R., Kratz, C. P., Kutsche, K., Pauli, S., Raskin, S., Rauch, A., Turner, A., Wieczorek, D., & Zenker, M. (2010). The face of Noonan syndrome: Does phenotype predict genotype. American Journal of Medical Genetics. Part A, 152A(8), 1960–1966. https://doi.org/10.1002/ajmg.a.33518
