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Homozygous variants of EDAR underlying hypohidrotic ectodermal dysplasia in three consanguineous families.
Eur J Dermatol. 2020 Aug 1;30(4):408-416. doi: 10.1684/ejd.2020.3844.
Eur J Dermatol. 2020.
PMID: 32819890
Exome sequencing revealed a novel nonsense variant in ALX3 gene underlying frontorhiny.
Ullah A, Umair M, E-Kalsoom U, Shahzad S, Basit S, Ahmad W.
Ullah A, et al. Among authors: e kalsoom u.
J Hum Genet. 2018 Jan;63(1):97-100. doi: 10.1038/s10038-017-0358-y. Epub 2017 Nov 16.
J Hum Genet. 2018.
PMID: 29215096
Clinical Trial.
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