{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T02:42:44Z","timestamp":1747190564354,"version":"3.40.5"},"reference-count":19,"publisher":"Wiley","license":[{"start":{"date-parts":[[2021,11,3]],"date-time":"2021-11-03T00:00:00Z","timestamp":1635897600000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Case Reports in Genetics"],"published-print":{"date-parts":[[2021,11,3]]},"abstract":"<jats:p>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.<\/jats:p>","DOI":"10.1155\/2021\/7133508","type":"journal-article","created":{"date-parts":[[2021,11,3]],"date-time":"2021-11-03T17:50:08Z","timestamp":1635961808000},"page":"1-6","source":"Crossref","is-referenced-by-count":2,"title":["Overlapping Phenotypes in Osteopetrosis and Pycnodysostosis in Asian-Indians"],"prefix":"10.1155","volume":"2021","author":[{"given":"Parminder","family":"Kaur","sequence":"first","affiliation":[{"name":"Department of Pediatrics, APC, PGIMER, Chandigarh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7375-9892","authenticated-orcid":true,"given":"Inusha","family":"Panigrahi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, APC, PGIMER, Chandigarh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Harleen","family":"Kaur","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, APC, PGIMER, Chandigarh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thakurvir","family":"Singh","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, APC, PGIMER, Chandigarh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chakshu","family":"Chaudhry","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, APC, PGIMER, Chandigarh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","reference":[{"key":"1","first-page":"365","article-title":"R\u00f6ntgenbilder einer seltenen Knockenerkrankung","volume":"5","author":"H. 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