Literature DB >> 27092432

Pycnodysostosis: mutation spectrum in five unrelated Indian children.

Kausik Mandal1, Sayantan Ray, Deepti Saxena, Priyanka Srivastava, Amita Moirangthem, Prajnya Ranganath, Neerja Gupta, Satinath Mukhopadhyay, Madhulika Kabra, Shubha R Phadke.   

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Year:  2016        PMID： 27092432     DOI： 10.1097/MCD.0000000000000128

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN： 0962-8827            Impact factor:   0.816


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  4 in total

1.  Pycnodysostosis: Novel Variants in CTSK and Occurrence of Giant Cell Tumor.

Authors:  Arya Shambhavi; Smrithi Salian; Hitesh Shah; Mohandas Nair; Krishna Sharan; Dong-Kyu Jin; Sung Yoon Cho; Mary Mathew; Anju Shukla; Katta M Girisha
Journal:  J Pediatr Genet       Date:  2017-07-13

2.  PYKNODYSOSTOSIS (OSTEOPETROSIS ACRO-OSTEOLYTICA).

Authors:  Gregory S Schmidt; John P Schacht; Treyce S Knee; Mohamed K M Shakir; Thanh D Hoang
Journal:  AACE Clin Case Rep       Date:  2020-06-23

Review 3.  Genetics of Osteopetrosis.

Authors:  Eleonora Palagano; Ciro Menale; Cristina Sobacchi; Anna Villa
Journal:  Curr Osteoporos Rep       Date:  2018-02       Impact factor: 5.096

Review 4.  A review of skeletal dysplasia research in India.

Authors:  A Uttarilli; H Shah; A Shukla; K M Girisha
Journal:  J Postgrad Med       Date:  2018 Apr-Jun       Impact factor: 1.476
  4 in total

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