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Fetal phenotypes of Mendelian disorders: A descriptive study from India.
Prenat Diagn. 2022 Jun;42(7):911-926. doi: 10.1002/pd.6172. Epub 2022 Jun 1.
Prenat Diagn. 2022.
PMID: 35587316
Fetal presentation of chondrodysplasia with joint dislocations, GPAPP type, caused by novel biallelic IMPAD1 variants.
Venkatapuram VS, Aggarwal S, Kulkarni AD, Vineeth VS, Bhikaji Dalal A, Bhat V, Kiran L, Patil SJ.
Venkatapuram VS, et al.
Am J Med Genet A. 2022 Apr;188(4):1287-1292. doi: 10.1002/ajmg.a.62622. Epub 2022 Jan 6.
Am J Med Genet A. 2022.
PMID: 34989141
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