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Case of Autosomal Recessive Woolly Hair/Hypotrichosis with Compound Heterozygous Mutations in the LIPH Gene at c.742C > A and c.614A > G: The First Japanese Case

research Case of autosomal recessive woolly hair/hypotrichosis with compound heterozygous mutations in the LIPH gene at c.742C > A and c.614A > G: The first Japanese case

February 2023 in “Journal of dermatology”

The first Japanese case of a genetic hair disorder caused by specific mutations in the LIPH gene was identified.

Unexpectedly High Carrier Rates and Genotype/Phenotype Correlation: LIPH Mutations in Japanese Autosomal Recessive Woolly Hair/Hypotrichosis

research Unexpectedly high carrier rates and genotype/phenotype correlation; LIPH mutations in Japanese autosomal recessive woolly hair/hypotrichosis

September 2016 in “Journal of Dermatological Science”

Certain gene mutations in Japanese people are linked to different types of hair loss, with some causing mild hair thinning and others leading to complete baldness.

research Human Hair Growth Deficiency Is Linked to a Genetic Defect in the Phospholipase Gene LIPH

194 citations , November 2006 in “Science”

A genetic mutation in the LIPH gene causes hair loss and growth defects.

research Diagnosis and treatment of isolated autosomal recessive woolly hair/hypotrichosis

December 2025 in “Frontiers in Medicine”

ARWH is a rare hair disorder with no cure, but potential treatments include minoxidil and other therapies.

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Dermatologist
Dra. Vanessa Mutton, MD
Sorocaba, SP, Brazil
25+ yrs

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Dra. Vanessa Mutton, MD