Associated Papers
Diagnosis and treatment of isolated autosomal recessive woolly hair/hypotrichosis.
Xie Y et al.
Frontiers in Medicine, 2025
Cell-trafficking impairment in disease-associated LPA6 missense mutants and a potential pharmacoperone therapy for autosomal recessive woolly hair/hypotrichosis.
Yanagida K et al.
Human Molecular Genetics, 2023
Mutations in LPAR6/P2RY5 and LIPH are associated with woolly hair and/or hypotrichosis.
Kurban M et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2013
A novel mutation in LPAR6 causes autosomal recessive hypotrichosis of the scalp.
Nahum S et al.
Clinical and Experimental Dermatology, 2011
Novel mutations in the P2RY5 gene in one Turkish and two Indian patients presenting with hypotrichosis and woolly hair.
Pasternack SM et al.
Archives of Dermatological Research, 2009
Autosomal recessive woolly hair with hypotrichosis caused by a novel homozygous mutation in the P2RY5 gene.
Shimomura Y et al.
Experimental Dermatology, 2009
Genome-wide linkage analysis of an autosomal recessive hypotrichosis identifies a novel P2RY5 mutation.
Petukhova L et al.
Genomics, 2008
Select a paper to view details