Spondylocostal Dysplasia in a 7-Year-Old Sri Lankan Girl Causing Restrictive Lung Disease: A Case Report and Review of the Literature

Spondylocostal dysplasia (SCD) is a rare costovertebral malformation characterised by short-trunk short stature. It is a recessively inherited disorder, and commonly identified disease-causing mutations are in DLL3 gene. The reported prevalence is 1 : 200,000 worldwide, and none was reported from Sr...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
में प्रकाशित:Case Rep Med
मुख्य लेखकों: Kamalanathan, Phirarthana, Fernando, Meranthi, Jayawardena, Rohan, Upasena, A., Rajindrajith, Shaman, Mettananda, Sachith
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: Hindawi 2020
विषय:
Case Report
ऑनलाइन पहुंच:https://ncbi.nlm.nih.gov/pmc/articles/PMC7558777/
https://ncbi.nlm.nih.gov/pubmed/33082787
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2020/9241207
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