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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Autores principales:	Parminder Kaur, Inusha Panigrahi, Harleen Kaur, Thakurvir Singh, Chakshu Chaudhry
Formato:	article
Lenguaje:	EN
Publicado:	Hindawi Limited 2021
Materias:	Genetics QH426-470
Acceso en línea:	https://doaj.org/article/a4dc6ca912f946b9b2f7a75e4a5e6faf
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spelling	oai:doaj.org-article:a4dc6ca912f946b9b2f7a75e4a5e6faf2021-11-15T01:19:41ZOverlapping Phenotypes in Osteopetrosis and Pycnodysostosis in Asian-Indians2090-655210.1155/2021/7133508https://doaj.org/article/a4dc6ca912f946b9b2f7a75e4a5e6faf2021-01-01T00:00:00Zhttp://dx.doi.org/10.1155/2021/7133508https://doaj.org/toc/2090-6552Osteopetrosis 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 recessive osteopetrosis and pycnodysostosis. The molecular confirmation was done in 3 cases. Genetic heterogeneity in clinical presentation is discussed here. Further studies will help in identifying epigenetic alterations and population-specific variants and also developing targeted therapies.Parminder KaurInusha PanigrahiHarleen KaurThakurvir SinghChakshu ChaudhryHindawi LimitedarticleGeneticsQH426-470ENCase Reports in Genetics, Vol 2021 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Genetics QH426-470
spellingShingle	Genetics QH426-470 Parminder Kaur Inusha Panigrahi Harleen Kaur Thakurvir Singh Chakshu Chaudhry Overlapping Phenotypes in Osteopetrosis and Pycnodysostosis in Asian-Indians
description	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 recessive osteopetrosis and pycnodysostosis. The molecular confirmation was done in 3 cases. Genetic heterogeneity in clinical presentation is discussed here. Further studies will help in identifying epigenetic alterations and population-specific variants and also developing targeted therapies.
format	article
author	Parminder Kaur Inusha Panigrahi Harleen Kaur Thakurvir Singh Chakshu Chaudhry
author_facet	Parminder Kaur Inusha Panigrahi Harleen Kaur Thakurvir Singh Chakshu Chaudhry
author_sort	Parminder Kaur
title	Overlapping Phenotypes in Osteopetrosis and Pycnodysostosis in Asian-Indians
title_short	Overlapping Phenotypes in Osteopetrosis and Pycnodysostosis in Asian-Indians
title_full	Overlapping Phenotypes in Osteopetrosis and Pycnodysostosis in Asian-Indians
title_fullStr	Overlapping Phenotypes in Osteopetrosis and Pycnodysostosis in Asian-Indians
title_full_unstemmed	Overlapping Phenotypes in Osteopetrosis and Pycnodysostosis in Asian-Indians
title_sort	overlapping phenotypes in osteopetrosis and pycnodysostosis in asian-indians
publisher	Hindawi Limited
publishDate	2021
url	https://doaj.org/article/a4dc6ca912f946b9b2f7a75e4a5e6faf
work_keys_str_mv	AT parminderkaur overlappingphenotypesinosteopetrosisandpycnodysostosisinasianindians AT inushapanigrahi overlappingphenotypesinosteopetrosisandpycnodysostosisinasianindians AT harleenkaur overlappingphenotypesinosteopetrosisandpycnodysostosisinasianindians AT thakurvirsingh overlappingphenotypesinosteopetrosisandpycnodysostosisinasianindians AT chakshuchaudhry overlappingphenotypesinosteopetrosisandpycnodysostosisinasianindians
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Overlapping Phenotypes in Osteopetrosis and Pycnodysostosis in Asian-Indians

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