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A case study of a novel homozygous EDAR splice site variant in hypohidrotic ectodermal dysplasia with tooth agenesis:

Parham Nejati1, Teymoor Khosravi2,3, Saba Lorestani4

  • 1Medical Biology Research Center, Health Technology Institute, Kermanshah University of Medical Sciences, Kermanshah, Iran.

BMC Medical Genomics
|December 17, 2025
PubMed
Abstract

No abstract available in PubMed .

Keywords:
Alternative splicingEDAR receptorExome sequencingHypohidrotic ectodermal dysplasiaMolecular dynamics simulation

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Incomplete Dominance01:43

Incomplete Dominance

Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.