Characterisation of a novel missense mutation in the

Humans Female Xeroderma Pigmentosum / complications Mutation, Missense Cockayne Syndrome / diagnosis Mutation
Dermatological Dermatology General practice / family medicine Paediatrics Skin cancer

Journal

BMJ case reports
ISSN: 1757-790X
Titre abrégé: BMJ Case Rep
Pays: England
ID NLM: 101526291

Informations de publication

Date de publication:
17 Oct 2023
Historique:
pmc-release: 17 10 2025
medline: 23 10 2023
pubmed: 18 10 2023
entrez: 17 10 2023
Statut: epublish

Résumé

Xeroderma pigmentosum-Cockayne syndrome complex (XP-CS) is exceedingly rare, with 43 cases described over the past five decades; 21 of these cases exhibited mutations in the ERCC5 endonuclease associated with xeroderma pigmentosum, group G.We report the first known phenotypic characterisation of the homozygous chromosome 13

Identifiants

DOI: 10.1136/bcr-2022-253358 PMID: 37848274 PMC: PMC10583051
pubmed: 37848274
pii: 16/10/e253358
doi: 10.1136/bcr-2022-253358
pmc: PMC10583051
pii:
doi:

Types de publication

Case Reports Journal Article

Langues

eng

Sous-ensembles de citation

IM

Informations de copyright

© BMJ Publishing Group Limited 2023. No commercial re-use. See rights and permissions. Published by BMJ.

Déclaration de conflit d'intérêts

Competing interests: None declared.

Auteurs

William Christopher Stehnach (WC)

Graduate Medical Education, Edward Via College of Osteopathic Medicine, Virginia Campus, Blacksburg, Virginia, USA.

Aaron Cantor (A)

Dermatology, Naval Medical Center Portsmouth, Portsmouth, Virginia, USA.

Michelle Bongiorno (M)

Walter Reed National Military Medical Center, Bethesda, Maryland, USA dr.michellebongiorno@gmail.com.

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Characterisation of a novel missense mutation in the
questionsmedicales.fr › Maladies métaboliques et nutritionnelles › Maladies métaboliques › Troubles dus à un défaut de réparation de l'ADN › Xeroderma pigmentosum › Characterisation of a novel missense mutation in the
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Mutation faux-sens › Characterisation of a novel missense mutation in the
questionsmedicales.fr › Maladies métaboliques et nutritionnelles › Maladies métaboliques › Troubles dus à un défaut de réparation de l'ADN › Syndrome de Cockayne › Characterisation of a novel missense mutation in the
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Characterisation of a novel missense mutation in the