Výsledky vyhledávání - "Chengxiu Xie"

Akademický článek

Yolk sac tumor and dysgerminoma in the left gonad following gonadoblastoma in the right gonad in a 46,XY DSD with a novel SRY missense mutation: a case report

Autor: Chengxiu Xie, Jian Cai, Nan Li, Ping Hua, Zexuan Yang, Xia Yu, Dongmei Tang, Yu Hu, Qingsong Liu

Publikováno v: BMC Pregnancy and Childbirth, Vol 23, Iss 1, Pp 1-8 (2023)

Abstract Background Approximately 10–15% of 46,XY disorders of sex development (DSDs) have an SRY mutation residing in the high mobility group (HMG) domain. Here, we present a case of 46,XY DSD caused by a novel missense mutation in the HMG region

Externí odkaz: https://doaj.org/article/c962bd971e284b22bf8488ae49c6455d

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A 2-bp deletion mutation in SMPD1 gene leading to lysosomal acid sphingomyelinase deficiency in a Chinese consanguineous pedigree

Autor: Han Kang, Min Zhou, Chengxiu Xie, Kangmo Lu

Publikováno v: Journal of Pediatric Endocrinology and Metabolism. 35:1113-1116

Objectives Niemann–Pick disease type A (NPDA, MIM: 257200) is an autosomal recessive sphingolipidosis caused by lysosomal acid sphingomyelinase (ASM) deficiency. A cluster of genes located at chromosome 11p15 have been reported to be imprinted gene

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::339e18ebed413013749b2d29d4370818
https://doi.org/10.1515/jpem-2021-0480

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