Novel PTRH2 gene variant causing IMNEPD (infantile-onset multisystem neurologic, endocrine, and pancreatic disease) in 2 Saudi siblings
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Format: | Book |
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The Korean Pediatric Society,
2023-05-01T00:00:00Z.
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001 | doaj_310e36ae8b8b49d18f46a3f09fdb3efa | ||
042 | |a dc | ||
100 | 1 | 0 | |a Dalal K. Bubshait |e author |
245 | 0 | 0 | |a Novel PTRH2 gene variant causing IMNEPD (infantile-onset multisystem neurologic, endocrine, and pancreatic disease) in 2 Saudi siblings |
260 | |b The Korean Pediatric Society, |c 2023-05-01T00:00:00Z. | ||
500 | |a 2713-4148 | ||
500 | |a 10.3345/cep.2022.01074 | ||
546 | |a EN | ||
690 | |a Pediatrics | ||
690 | |a RJ1-570 | ||
655 | 7 | |a article |2 local | |
786 | 0 | |n Clinical and Experimental Pediatrics, Vol 66, Iss 5, Pp 223-225 (2023) | |
787 | 0 | |n http://www.e-cep.org/upload/pdf/cep-2022-01074.pdf | |
787 | 0 | |n https://doaj.org/toc/2713-4148 | |
856 | 4 | 1 | |u https://doaj.org/article/310e36ae8b8b49d18f46a3f09fdb3efa |z Connect to this object online. |