A novel missense mutation affecting the human hairless thyroid receptor interacting domain 2 causes congenital atrichia.

@article{Klein2002ANM,
  title={A novel missense mutation affecting the human hairless thyroid receptor interacting domain 2 causes congenital atrichia.},
  author={Izabella Klein and Reuven Bergman and Margerita Indelman and Eli Sprecher},
  journal={The Journal of investigative dermatology},
  year={2002},
  volume={119 4},
  pages={920-2}
}
Congenital atrichias represent a large and heterogeneous group of inherited hair disorders. In this report, we describe a patient affected with alopecia universalis congenita (MIM 203655). Sequence analysis revealed a G to A transition at cDNA position 3034 of the hairless hr gene present in a homozygous state in the patient and in a heterozygous state in the patient's mother, and absent in the patient's sister. The mutation is predicted to result in the substitution of an asparagine residue… CONTINUE READING

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