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A Novel Variant c.847T>C in CTSK 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...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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SAGE Publications
2019
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6444763/ https://www.ncbi.nlm.nih.gov/pubmed/30967749 http://dx.doi.org/10.1177/1179547619837234 |