Spectrum of PTCH1 Mutations in French Patients with Gorlin Syndrome
- 1 September 2003
- journal article
- Published by Elsevier in Journal of Investigative Dermatology
- Vol. 121 (3) , 478-481
- https://doi.org/10.1046/j.1523-1747.2003.12423.x
Abstract
No abstract availableKeywords
This publication has 18 references indexed in Scilit:
- GDNF as a candidate modifier in a type 1 neurofibromatosis (NF1) enteric phenotypeJournal of Medical Genetics, 2001
- NF1 microdeletion breakpoints are clustered at flanking repetitive sequences.Human Molecular Genetics, 2000
- Identification of Mutations in the Human PATCHED Gene in Sporadic Basal Cell Carcinomas and in Patients with the Basal Cell Nevus SyndromeJournal of Investigative Dermatology, 1998
- Gorlin syndrome: Identification of 4 novel germ-line mutations of the human patched (PTCH) geneHuman Mutation, 1998
- Mutations of the Human Homolog of Drosophila patched in the Nevoid Basal Cell Carcinoma SyndromePublished by Elsevier ,1996
- Human Homolog of patched , a Candidate Gene for the Basal Cell Nevus SyndromeScience, 1996
- Complications of the naevoid basal cell carcinoma syndrome: results of a population based study.Journal of Medical Genetics, 1993
- Developmental defects in gorlin syndrome related to a putative tumor suppressor gene on chromosome 9Published by Elsevier ,1992
- Location of gene for Gorlin syndromeThe Lancet, 1992
- Multiple Nevoid Basal-Cell Epithelioma, Jaw Cysts and Bifid RibNew England Journal of Medicine, 1960