What type of study is this?

This is a Case Report study (also classified as: Animal Study).

A Missense Variant Within the Helix Termination Motif of KRT71 Causes Autosomal Dominant Woolly Hair/Hypotrichosis in a Chinese Family

View Full Paper

Ask AI

Bookmark

Identified a heterozygous missense variant linked to autosomal dominant woolly hair in a Chinese family.
Sanger sequencing demonstrated complete co-segregation of the krt71 variant with the disease phenotype in the family.
Analysis of polymorphisms in krt71 showed links to various curly/wavy coat phenotypes across species.
This finding suggests a broader genotypic and phenotypic spectrum for hereditary hair disorders, particularly woolly hair.

No takes yet. Share an insight, caveat, or question.

Observational analysis reports a missense variant in krt71 causing woolly hair in one family, indicating genetic implications for hair disorders.

Chen et al. (2025) studied this question.

View Full Paper

Ask AI

Bookmark

Observational analysis reports a missense variant in krt71 causing woolly hair in one family, indicating genetic implications for hair disorders.