دورية أكاديمية
An ultra-rare case of immunoskeletal dysplasia with neurodevelopmental abnormalities in an Indian patient with homozygous c.953C > T variant in EXTL3 gene: a case report
العنوان: | An ultra-rare case of immunoskeletal dysplasia with neurodevelopmental abnormalities in an Indian patient with homozygous c.953C > T variant in EXTL3 gene: a case report |
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المؤلفون: | Bajaj, Shruti, Satoskar, Purnima, Nair, Aadhira, Sheth, Frenny, Sheth, Jayesh, Sheth, HarshAff3, IDs12887022031432_cor6 |
المصدر: | BMC Pediatrics. 22(1) |
قاعدة البيانات: | Springer Nature Journals |
تدمد: | 14712431 |
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DOI: | 10.1186/s12887-022-03143-2 |