Horev L, Tosti A, Rosen I, Hershko K, Vincenzi C, Nanova K, Mali A, Potikha T,Zlotogorski A. Mutations in lipase H cause autosomal recessive hypotrichosissimplex with woolly hair. J Am Acad Dermatol. 2009 Nov;61(5):813-8. doi:10.1016/j.jaad.2009.04.020.
Khan S, Habib R, Mir H, Umm-e-Kalsoom, Naz G, Ayub M, Shafique S, Yamin T, AliN, Basit S, Wasif N, Kamran-Ul-Hassan Naqvi S, Ali G, Wali A, Ansar M, Ahmad W.Mutations in the LPAR6 and LIPH genes underlie autosomal recessivehypotrichosis/woolly hair in 17 consanguineous families from Pakistan. Clin ExpDermatol. 2011 Aug;36(6):652-4. doi: 10.1111/j.1365-2230.2011.04014.x.
Kurban M, Wajid M, Shimomura Y, Christiano AM. Mutations in LPAR6/P2RY5 andLIPH are associated with woolly hair and/or hypotrichosis. J Eur Acad DermatolVenereol. 2013 May;27(5):545-9. doi: 10.1111/j.1468-3083.2012.04472.x.
Shimomura Y, Wajid M, Petukhova L, Shapiro L, Christiano AM. Mutations in the lipase H gene underlie autosomal recessive woolly hair/hypotrichosis. J InvestDermatol. 2009 Mar;129(3):622-8. doi: 10.1038/jid.2008.290.
Shimomura Y, Wajid M, Zlotogorski A, Lee YJ, Rice RH, Christiano AM. Foundermutations in the lipase h gene in families with autosomal recessive woollyhair/hypotrichosis. J Invest Dermatol. 2009 Aug;129(8):1927-34. doi:10.1038/jid.2009.19.
Shinkuma S, Akiyama M, Inoue A, Aoki J, Natsuga K, Nomura T, Arita K, Abe R,Ito K, Nakamura H, Ujiie H, Shibaki A, Suga H, Tsunemi Y, Nishie W, Shimizu H.Prevalent LIPH founder mutations lead to loss of P2Y5 activation ability ofPA-PLA1alpha in autosomal recessive hypotrichosis. Hum Mutat. 2010May;31(5):602-10. doi: 10.1002/humu.21235.
Tanahashi K, Sugiura K, Takeichi T, Takama H, Shinkuma S, Shimizu H, AkiyamaM. Prevalent founder mutation c.736T>A of LIPH in autosomal recessive woolly hairof Japanese leads to variable severity of hypotrichosis in adulthood. J Eur Acad Dermatol Venereol. 2013 Sep;27(9):1182-4. doi: 10.1111/j.1468-3083.2012.04526.x.
Contributor
MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register
: Dean Liu
You are not a member of the advisory board for this topic. If you want to update advisory board member profile, please contact office@encyclopedia.pub.
OK
Confirm
Only members of the Encyclopedia advisory board for this topic are allowed to note entries. Would you like to become an advisory board member of the Encyclopedia?