Phenotypic and genotypic spectrum of CTSK variants in a cohort of twenty-five Indian patients with pycnodysostosis-Reference-Cited by-同舟云学术

Phenotypic and genotypic spectrum of CTSK variants in a cohort of twenty-five Indian patients with pycnodysostosis

Published:2021-07 Issue:7 Volume:64 Page:104235
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

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.^ORCID

Funder

Indian Council of Medical Research

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference21 articles.

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2. Cathepsin K analysis in a pycnodysostosis cohort: demographic, genotypic and phenotypic features;Arman;Orphanet J. Rare Dis.,2014

3. Pycnodysostosis: Natural history and management guidelines from 27 French cases and a literature review;Bizaoui;Clin. Genet.,2019

4. Fracture management in pycnodysostosis: 27 years of follow-up;Bor;J. Pediatr. Orthop. B,2011

5. Molecular analysis and characterization of nine novel CTSK mutations in twelve patients affected by pycnodysostosis;Donnarumma;Hum. Mutat.,2007

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