Associated Papers
Autosomal recessive woolly hair/hypotrichosis with homozygous mutation in the LIPH gene: a case report.
Alwunais K et al.
Dermatology Reports, 2025
Complete defect in PA-PLA1α secretion function leading to autosomal recessive woolly hair and hypotrichosis: insights from a novel compound heterozygous LIPH variant study in a Chinese pedigree.
Zhang X et al.
Frontiers in Genetics, 2025
40417239 (PubMed )
Supplement: DataSheet1.pdf
Diagnosis and treatment of isolated autosomal recessive woolly hair/hypotrichosis.
Xie Y et al.
Frontiers in Medicine, 2025
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
38584274 (PubMed )
Supplement: 13073_2024_1307_MOESM1_ESM.xlsx › Table_S3
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
Spectrum of neuro-genetic disorders in the United Arab Emirates national population.
Saleh S et al.
Clinical Genetics, 2021
Genetic dissection of two Pakistani families with consanguineous localized autosomal recessive hypotrichosis (LAH).
Abbas S et al.
Iranian Journal of Basic Medical Sciences, 2014
In silico analysis of missense mutations in LPAR6 reveals abnormal phospholipid signaling pathway leading to hypotrichosis.
Raza SI et al.
Plos One, 2014
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
Mutations in the P2RY5 gene underlie autosomal recessive hypotrichosis in 13 Pakistani families.
Tariq M et al.
The British Journal of Dermatology, 2009
Autosomal recessive woolly hair with hypotrichosis caused by a novel homozygous mutation in the P2RY5 gene.
Shimomura Y et al.
Experimental Dermatology, 2009
Novel mutations in G protein-coupled receptor gene (P2RY5) in families with autosomal recessive hypotrichosis (LAH3).
Azeem Z et al.
Human Genetics, 2008
Disruption of P2RY5, an orphan G protein-coupled receptor, underlies autosomal recessive woolly hair.
Shimomura Y et al.
Nature Genetics, 2008
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