Autosomal recessive woolly hair/hypotrichosis (ARWH/H) is a rare nonsyndromic hair abnormality characterized by sparse, short, and curly hair. we report a case of a 5-year-old girl from consanguineous parents, who presented with ARWH/H since birth. Dermoscopic findings showed thin sparse hair. Genetic testing showed homozygous mutation in the gene.
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| http://dx.doi.org/10.1159/000505134 | DOI Listing |
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Validation of a hypomorphic variant in CDK13 as the cause of CHDFIDD with autosomal recessive inheritance through determination of an episignature.
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Faculty of Medicine of TUD Dresden University of Technology, Institute for Clinical Genetics, University Hospital Carl Gustav Carus at TUD Dresden University of Technology, Dresden, Germany.
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