Molecular analysis of the CTSK gene in a cohort of 33 Brazilian families with pycnodysostosis from a cluster in a Brazilian Northeast region

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 prevalenc...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Eur J Med Res
Prif Awduron: 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
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: BioMed Central 2016
Pynciau:
Research
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC4997772/
https://ncbi.nlm.nih.gov/pubmed/27558267
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s40001-016-0228-7
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