Woolly hair in tricho-dento-osseous syndrome.

Héctor Perandones González Lluís RusiñolDavid BosquezLluis Brunet-LlobetMarta IvarsDélia YuberoOfer SarigLiron MalkiAlon PeledEli SprecherEulalia Baselga

Published in: Pediatric dermatology (2023)

Tricho-dento-osseous syndrome (TDOS) is a rare ectodermal dysplasia caused by mutations in the DLX3 gene and it is not usually included as a cause of syndromic woolly hair. We present a new case of TDOS with a novel DLX3 variant and woolly hair.

Keyphrases

case report
genome wide
copy number
gene expression
dna methylation