Associated Papers
Genetic and Molecular Evaluation: Reporting Three Novel Mutations and Creating Awareness of Pycnodysostosis Disease.
Sayed Amr K et al.
Genes, 2021
The genotypic and phenotypic spectrum of pycnodysostosis in Saudi Arabia: Novel variants and clinical findings.
Mushiba AM et al.
American Journal of Medical Genetics. Part A, 2021
Pycnodysostosis: Natural history and management guidelines from 27 French cases and a literature review.
Bizaoui V et al.
Clinical Genetics, 2019
Molecular analysis of the CTSK gene in a cohort of 33 Brazilian families with pycnodysostosis from a cluster in a Brazilian Northeast region.
Araujo TF et al.
European Journal of Medical Research, 2016
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