The Iberian legacy into a young genetic xeroderma pigmentosum cluster in central Brazil

Author:

Castro L.P.,Sahbatou M.,Kehdy F.S.G.,Farias A.A.,Yurchenko A.A.,de Souza T.A.,Rosa R.C.A.,Mendes-Junior C.T.,Borda V.,Munford V.,Zanardo É.A.,Chehimi S.N.,Kulikowski L.D.,Aquino M.M.,Leal T.P.,Tarazona-Santos E.,Chaibub S.C.,Gener B.,Calmels N.,Laugel V.,Sarasin A.,Menck C.F.M.

Funder

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior

Conselho Nacional de Desenvolvimento Científico e Tecnológico

Fundação de Amparo à Pesquisa do Estado de São Paulo

Financiadora de Estudos e Projetos

Publisher

Elsevier BV

Subject

Health, Toxicology and Mutagenesis,Genetics

Reference44 articles.

1. Clusters of genetic diseases in Brazil;Cardoso;J. Community Genet.,2018

2. A genetic cluster of patients with variant xeroderma pigmentosum with two different founder mutations;Munford;Br. J. Dermatol.,2017

3. Psychological correlates of adherence to photoprotection in a rare disease: international survey of people with Xeroderma Pigmentosum;Walburn;Br. J. Health Psychol.,2019

4. Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect;Fassihi;Proc. Natl. Acad. Sci.,2016

5. Correlation of phenotype/genotype in a cohort of 23 xeroderma pigmentosum-variant patients reveals 12 new disease-causing POLH mutations;Opletalova;Hum. Mutat.,2014

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