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A novel missense mutation in GREB1L identified in a three-generation family with renal hypodysplasia/aplasia-3.

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Title: A novel missense mutation in GREB1L identified in a three-generation family with renal hypodysplasia/aplasia-3.
Authors: Wu S; Joint Laboratory of Reproductive Medicine, Gynaecology and Paediatric Diseases and Birth Defects of Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu, 610041, People's Republic of China., Wang X; Joint Laboratory of Reproductive Medicine, Gynaecology and Paediatric Diseases and Birth Defects of Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu, 610041, People's Republic of China., Dai S; Joint Laboratory of Reproductive Medicine, Gynaecology and Paediatric Diseases and Birth Defects of Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu, 610041, People's Republic of China., Zhang G; Joint Laboratory of Reproductive Medicine, Gynaecology and Paediatric Diseases and Birth Defects of Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu, 610041, People's Republic of China., Zhou J; Division of Ultrasound, West China Hospital of Sichuan University, Chengdu, 610041, People's Republic of China. zhoujiaojiao@wchscu.cn., Shen Y; Joint Laboratory of Reproductive Medicine, Gynaecology and Paediatric Diseases and Birth Defects of Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu, 610041, People's Republic of China. yingcaishen01@163.com.
Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2022 Nov 12; Vol. 17 (1), pp. 413. Date of Electronic Publication: 2022 Nov 12.
Publication Type: Journal Article
Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE
Database: MEDLINE Complete
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Description
ISSN:1750-1172
DOI:10.1186/s13023-022-02553-w