Article
Phenotypic and genotypic spectrum of CTSK variants in a cohort of twenty-five Indian patients with pycnodysostosis.
European journal of medical genetics - 1 Jul 2021
Sait Haseena, Srivastava Priyanka, Gupta Neerja, Kabra Madhulika, Kapoor Seema, Ranganath Prajnya, Rungsung Ikrormi, Mandal Kausik, Saxena Deepti, Dalal Ashwin, Roy Ajitesh, Pabbati Jayalakshmi, Phadke Shubha R
Abstract excerpt
BACKGROUND: Pycnodysostosis is an autosomal recessive skeletal dysplasia with easily recognizable clinical features and marked molecular heterogeneity. In this study, we explored the clinical and molecular spectrum of 25 Indian patients with pycnodysostosis from 20 families. METHODS: Clinical information was collected on a predesigned clinical proforma. Sanger method was employed to sequence all the exons and...
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