Muir-Torre syndrome: a case of unusual coexisting genetic mutations.
Clin Exp Dermatol
; 47(3): 602-604, 2022 Mar.
Article
en En
| MEDLINE
| ID: mdl-34762321
ABSTRACT
Patients with Muir-Torre syndrome (MTS) commonly have germline mismatch repair mutations in MLH1, MSH2 or MSH6, with a strong predominance in MSH2. A subset of approximately one-third of patients will instead have an autosomal recessive base excision repair mutation in MUTYH called MUTYH polyposis. To the best of our knowledge, this is the first report of coexisting germline MSH2 and MUTYH mutations in a patient with MTS.
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Mutación de Línea Germinal
/
ADN Glicosilasas
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Proteína 2 Homóloga a MutS
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Síndrome de Muir-Torre
Tipo de estudio:
Diagnostic_studies
Límite:
Adult
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Humans
/
Male
Idioma:
En
Revista:
Clin Exp Dermatol
Año:
2022
Tipo del documento:
Article
País de afiliación:
Irlanda