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Xeroderma pigmentosum, variant form

MedGen UID:
609460
•Concept ID:
C0432328
•
Congenital Abnormality; Disease or Syndrome
Synonyms: Pigmented xerodermoid; Xeroderma pigmentosum XP variant
SNOMED CT: Xeroderma pigmentosum XP variant (88877002); Xeroderma pigmentosum, variant form (88877002); Pigmented xerodermoid (88877002)

Professional guidelines

PubMed

Involvement of MRE11A and XPA gene polymorphisms in the modulation of DNA double-strand break repair activity: a genotype-phenotype correlation study.
Ricceri F, Porcedda P, Allione A, Turinetto V, Polidoro S, Guarrera S, Rosa F, Voglino F, Pezzotti A, Minieri V, Accomasso L, Cibrario Rocchietti E, Orlando L, Giachino C, Matullo G
DNA Repair (Amst) 2011 Oct 10;10(10):1044-50. Epub 2011 Aug 30 doi: 10.1016/j.dnarep.2011.08.003. PMID: 21880556

Recent clinical studies

Etiology

A founder large deletion mutation in Xeroderma pigmentosum-Variant form in Tunisia: implication for molecular diagnosis and therapy.
Ben Rekaya M, Laroussi N, Messaoud O, Jones M, Jerbi M, Naouali C, Bouyacoub Y, Chargui M, Kefi R, Fazaa B, Boubaker MS, Boussen H, Mokni M, Abdelhak S, Zghal M, Khaled A, Yacoub-Youssef H
Biomed Res Int 2014;2014:256245. Epub 2014 May 4 doi: 10.1155/2014/256245. PMID: 24877075Free PMC Article

Diagnosis

A founder large deletion mutation in Xeroderma pigmentosum-Variant form in Tunisia: implication for molecular diagnosis and therapy.
Ben Rekaya M, Laroussi N, Messaoud O, Jones M, Jerbi M, Naouali C, Bouyacoub Y, Chargui M, Kefi R, Fazaa B, Boubaker MS, Boussen H, Mokni M, Abdelhak S, Zghal M, Khaled A, Yacoub-Youssef H
Biomed Res Int 2014;2014:256245. Epub 2014 May 4 doi: 10.1155/2014/256245. PMID: 24877075Free PMC Article

Therapy

A founder large deletion mutation in Xeroderma pigmentosum-Variant form in Tunisia: implication for molecular diagnosis and therapy.
Ben Rekaya M, Laroussi N, Messaoud O, Jones M, Jerbi M, Naouali C, Bouyacoub Y, Chargui M, Kefi R, Fazaa B, Boubaker MS, Boussen H, Mokni M, Abdelhak S, Zghal M, Khaled A, Yacoub-Youssef H
Biomed Res Int 2014;2014:256245. Epub 2014 May 4 doi: 10.1155/2014/256245. PMID: 24877075Free PMC Article

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