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Fetal presentation of chondrodysplasia with joint dislocations, GPAPP type, caused by novel biallelic IMPAD1 variants.
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
Ectodysplasin pathogenic variants affecting the furin-cleavage site and unusual clinical features define X-linked hypohidrotic ectodermal dysplasia in India.
Chaudhary AK, Gholse A, Nagarajaram HA, Dalal AB, Gupta N, Dutta AK, Danda S, Gupta R, Sankar HV, Bhavani GS, Girisha KM, Phadke SR, Ranganath P, Bashyam MD.
Chaudhary AK, et al. Among authors: dalal ab.
Am J Med Genet A. 2022 Mar;188(3):788-805. doi: 10.1002/ajmg.a.62579. Epub 2021 Dec 4.
Am J Med Genet A. 2022.
PMID: 34863015
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