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2015 | 1 |
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Phenotype-genotype correlations for clinical variants caused by CYLD mutations.
Eur J Med Genet. 2015 May;58(5):271-8. doi: 10.1016/j.ejmg.2015.02.010. Epub 2015 Mar 14.
Eur J Med Genet. 2015.
PMID: 25782638
Review.
In 1996, the gene locus for BSS was mapped to 16q12-13, and, in 2000, mutations in the cylindromatosis (CYLD) gene were determined to cause BSS, familial cylindromatosis (FC; OMIM 132700) and multiple familial trichoepithelioma type 1 (MFT1; OMIM 60160 …
In 1996, the gene locus for BSS was mapped to 16q12-13, and, in 2000, mutations in the cylindromatosis (CYLD) gene were determined to …
Mutations in the CYLD gene in Brooke-Spiegler syndrome, familial cylindromatosis, and multiple familial trichoepithelioma: lack of genotype-phenotype correlation.
Bowen S, Gill M, Lee DA, Fisher G, Geronemus RG, Vazquez ME, Celebi JT.
Bowen S, et al.
J Invest Dermatol. 2005 May;124(5):919-20. doi: 10.1111/j.0022-202X.2005.23688.x.
J Invest Dermatol. 2005.
PMID: 15854031
Free article.
Brooke-Spiegler syndrome (BSS), familial cylindromatosis (FC), and multiple familial trichoepithelioma (MFT), originally described as distinct entities, share overlapping clinical findings. ...
Brooke-Spiegler syndrome (BSS), familial cylindromatosis (FC), and multiple familial trichoepithelioma (MFT), originall …
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