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Familial Cylindromatosis

Turban tumor syndrome
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Review Articles from PubMed

Review articles summarize what is currently known about a disease. They discuss research previously published by others. The terms "Familial Cylindromatosis" returned 0 free, full-text review articles. First 0 results:
No publications were found for this category.
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Editorials from PubMed

Editorial articles describe the outcome of a single study. They are the published results of original research. The terms "Familial Cylindromatosis" returned 0 free, full-text editorial articles. First 0 results:
No publications were found for this category.
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Research Articles from PubMed

Research articles describe the outcome of a single study. They are the published results of original research. The terms "Familial Cylindromatosis" returned 7 free, full-text research articles. First few results:
The CYLD p.R758X worldwide recurrent nonsense mutation detected in patients with multiple familial trichoepithelioma type 1, Brooke-Spiegler syndrome and familial cylindromatosis represents a mutational hotspot in the gene.
Last Updated: Nov 13, 2018

Multiple familial trichoepithelioma type 1 (MFT1; MIM 601606), a rare monogenic skin disease with autosomal dominant inheritance, is characterized by the development of multiple skin-colored papules on the central area of the face, frequently occurring in the nasolabial area. The ...

A novel frameshift mutation in the cylindromatosis (CYLD) gene in a Chinese family with multiple familial trichoepithelioma.
Last Updated: Nov 16, 2017

Multiple familial trichoepithelioma (MFT) (OMIM: 601606) is an autosomal dominantly inherited disorder characterized by numerous, skin-colored papules and nodules with pilar differentiation. Recently, several mutations in the cylindromatosis (CYLD) gene have been reported in MFT. ...

Identification of a large rearrangement in CYLD as a cause of familial cylindromatosis.
Last Updated: Nov 13, 2018

Pathogenic mutations in CYLD can be identified in patients affected with Brooke-Spiegler syndrome, (Familial) Cylindromatosis or multiple familial trichoepithelioma. To date, only technologies which are able to identify small point mutations in CYLD, such as sequence and WAVE analysis, ...

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7 Free Research Articles 16 Research Articles