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Page 1
Darier's disease in Singapore.
Goh BK, Ang P, Goh CL. Goh BK, et al. Br J Dermatol. 2005 Feb;152(2):284-8. doi: 10.1111/j.1365-2133.2004.06364.x. Br J Dermatol. 2005. PMID: 15727640
The phenotype of Darier's disease: penetrance and expressivity in adults and children.
Munro CS. Munro CS. Br J Dermatol. 1992 Aug;127(2):126-30. doi: 10.1111/j.1365-2133.1992.tb08044.x. Br J Dermatol. 1992. PMID: 1390140
Forty-two cases were known to dermatologists, and 33 were identified in the course of the study: 60 were adults (above the age of 20) and 15 were children. ...
Forty-two cases were known to dermatologists, and 33 were identified in the course of the study: 60 were adults (above the age of 20) …
Clinical testing for the nevoid basal cell carcinoma syndrome in a DNA diagnostic laboratory.
Klein RD, Dykas DJ, Bale AE. Klein RD, et al. Genet Med. 2005 Nov-Dec;7(9):611-9. doi: 10.1097/01.gim.0000182879.57182.b4. Genet Med. 2005. PMID: 16301862 Free article.
PURPOSE: This study determines which clinical features predict positive test results among samples submitted for DNA-based diagnostic nevoid basal cell carcinoma syndrome (NBCCS) testing, and further defines the mutational spectrum of the PTCH gene. ...
PURPOSE: This study determines which clinical features predict positive test results among samples submitted for DNA-based diagnostic …
Multiple nevoid basal cell carcinoma syndrome associated with congenital orbital teratoma, caused by a PTCH1 frameshift mutation.
Rodrigues AL, Carvalho A, Cabral R, Carneiro V, Gilardi P, Duarte CP, Puente-Prieto J, Santos P, Mota-Vieira L. Rodrigues AL, et al. Genet Mol Res. 2014 Jul 25;13(3):5654-63. doi: 10.4238/2014.July.25.21. Genet Mol Res. 2014. PMID: 25117323 Free article.
This mutation generated a frameshift within exon 2 and an early premature stop codon (p.Asn97LysfsX43), predicting a truncated protein with complete loss of function. Identification of this mutation is useful for genetic counseling. Although the clinical symptoms are well- …
This mutation generated a frameshift within exon 2 and an early premature stop codon (p.Asn97LysfsX43), predicting a truncated protei …