Novel nonsense variants in SLURP1 and DSG1 cause palmoplantar keratoderma in Pakistani families.

Abida AkbarClaire PrinceChloe PayneJames FashamWasim AhmadEmma L BapleAndrew H CrosbyGaurav V HarlalkaAsma Gul

Published in: BMC medical genetics (2019)

This study expands knowledge regarding the molecular basis of PPK, providing important information to aid clinical management in families with PPK from Pakistan.

Keyphrases

healthcare
copy number
dna methylation