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

التفاصيل البيبلوغرافية
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
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
الوصف
تدمد:14712431
DOI:10.1186/s12887-022-03143-2