A Novel Variant c.847T>C in Gene Leading to Pycnodysostosis: A Case Report
Pycnodysostosis is a rare genetic disorder with a prevalence of 1.7 per million births; it usually presents with short stature, osteosclerosis, increased bone fragility, and acro-osteolysis of distal phalanges. There are less than 200 cases reported worldwide and very few from South-East Asia. We pr...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
SAGE Publishing
2019-03-01
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| Series: | Clinical Medicine Insights: Case Reports |
| Online Access: | https://doi.org/10.1177/1179547619837234 |