Mutations in the lipase H gene underlie autosomal recessive woolly hair/hypotrichosis.

@article{Shimomura2009MutationsIT,
  title={Mutations in the lipase H gene underlie autosomal recessive woolly hair/hypotrichosis.},
  author={Yutaka Shimomura and Muhammad Wajid and L. I. Petukhova and Lawrence Shapiro and Angela M. Christiano},
  journal={The Journal of investigative dermatology},
  year={2009},
  volume={129 3},
  pages={
          622-8
        }
}
Woolly hair (WH) is characterized by the presence of fine and tightly curled hair. WH can appear as a symptom of some systemic diseases, or without associated findings (nonsyndromic WH). Nonsyndromic WH is known to be inherited as either an autosomal-dominant (OMIM 194300) or recessive (ARWH; OMIM 278150) trait. In this study, we identified 11 consanguineous families of Pakistani origin with ARWH, as well as associated features including sparse and hypopigmented hair shafts. We first checked… CONTINUE READING
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