Associated Papers
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
41024252 (PubMed )
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Autosomal recessive woolly hair/hypotrichosis with homozygous mutation in the LIPH gene: a case report.
Alwunais K et al.
Dermatology Reports, 2025
Diagnosis and treatment of isolated autosomal recessive woolly hair/hypotrichosis.
Xie Y et al.
Frontiers in Medicine, 2025
Evaluation of hair structural abnormalities in children with different neurological diseases.
Sevinç SH et al.
The Turkish Journal of Pediatrics, 2022
What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations.
Alfares A et al.
Bmc Medical Genomics, 2020
32680510 (PubMed )
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Unusual Clinical Presentation of Autosomal Recessive Woolly Hair.
Alsharif O et al.
Skin Appendage Disorders, 2020
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
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
G protein-coupled receptor P2Y5 and its ligand LPA are involved in maintenance of human hair growth.
Pasternack SM et al.
Nature Genetics, 2008
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