Investigation of the genetic and clinical features of laterality disorders in prenatal diagnosis: discovery of a novel compound heterozygous mutation in the DNAH11 gene

Author:

Zhang Simin,Wang Jingjing,Sun Lijuan,Han Jijing,Xiong Xiaowei,Xiao Dan,Wu QingqingORCID

Funder

National Key Research and Development Program of China

National Natural Science Foundation of China

Publisher

Springer Science and Business Media LLC

Reference43 articles.

1. Jacobs JP, Anderson RH, Weinberg PM, Walters HL 3rd, Tchervenkov CI, Del Duca D, Franklin RC, Aiello VD, Béland MJ, Colan SD et al (2007) The nomenclature, definition and classification of cardiac structures in the setting of heterotaxy. Cardiol Young 17(Suppl 2):1–28

2. Deng H, Xia H, Deng S (2015) Genetic basis of human left-right asymmetry disorders. Expert Rev Mol Med 16:e19

3. Soofi M, Alpert MA, Barbadora J, Mukerji B, Mukerji V (2021) Human laterality disorders: pathogenesis, clinical manifestations, diagnosis, and management. Am J Med Sci 362(3):233–242

4. Bartoloni L, Blouin JL, Pan Y, Gehrig C, Maiti AK, Scamuffa N, Rossier C, Jorissen M, Armengot M, Meeks M et al (2002) Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia. Proc Natl Acad Sci USA 99(16):10282–10286

5. Peeters H, Devriendt K (2006) Human laterality disorders. Eur J Med Genet 49(5):349–362

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