Article
Molecular analysis of the CTSK gene in a cohort of 33 Brazilian families with pycnodysostosis from a cluster in a Brazilian Northeast region.
European journal of medical research - 24 Aug 2016
Araujo Thaís Fenz, Ribeiro Erlane Marques, Arruda Anderson Pontes, Moreno Carolina Araujo, de Medeiros Paula Frassinetti Vasconcelos, Minillo Renata Moldenhauer, Melo Débora Gusmão, Kim Chong Ae, Doriqui Maria Juliana Rodovalho, Felix Têmis Maria, Fock Rodrigo Ambrosio, Cavalcanti Denise Pontes
Abstract excerpt
BACKGROUND: Pycnodysostosis is an autosomal recessive skeletal dysplasia, the prevalence of which is estimated to be low (1 per million). Nevertheless, in recent years we have found 27 affected individuals from 22 families in Ceará State, a region of the Brazilian Northeast, giving a local prevalence of 3 per million. This local prevalence associated with a high parental consanguinity, suggesting a possible...
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