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Article

Two cases of severe congenital hypotrichosis caused by compound heterozygous mutations in the LSS gene.

The Journal of dermatology - 1 Mar 2021

Murata Mami, Hayashi Ryota, Kawakami Yoshio, Morizane Shin, Shimomura Yutaka

Abstract excerpt

It has recently been shown that bi-allelic mutations in the lanosterol synthase (LSS) gene, which was originally reported as a causative gene for congenital cataracts, underlie a non-syndromic form of hypotrichosis. Furthermore, it has also been revealed that mutations in the LSS gene can cause syndromic forms of hypotrichosis. To date, however, clear genotype-phenotype correlations have not completely been...

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PMID: 33155697
DOI: 10.1111/1346-8138.15679

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