Overlapping Phenotypes in Osteopetrosis and Pycnodysostosis in Asian-Indians

Osteopetrosis is a disorder characterized by high bone density, hepatosplenomegaly, visual and hearing loss, and anemia. Pycnodysostosis presents with short stature, acroosteolysis, and dense bones. We, hereby, present here a family with autosomal dominant osteopetrosis and also children with recess...

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Bibliographic Details
Main Authors: Parminder Kaur, Inusha Panigrahi, Harleen Kaur, Thakurvir Singh, Chakshu Chaudhry
Format: Article
Language:English
Published: Wiley 2021-01-01
Series:Case Reports in Genetics
Online Access:http://dx.doi.org/10.1155/2021/7133508