Sequence variants in nine different genes underlying rare skin disorders in 10 consanguineous families.

Khadim ShahSabba MehmoodAbid JanIzoduwa AbbeRaja Hussain AliAnwar KhanMuhammad S ChishtiKwanghyuk LeeFarooq AhmadMuhammad Ansarnull nullShaheen ShahzadDeborah A NickersonMichael J BamshadPaul J CouckeRegie L P Santos-CortezRichard A SpritzSuzanne M LealWasim Ahmad

Published in: International journal of dermatology (2018)

This study supports the use of exome sequencing as a powerful, efficient tool for identifying genes that underlie rare monogenic skin disorders.

Keyphrases

genome wide
copy number
soft tissue
wound healing
genome wide identification
bioinformatics analysis
single cell
dna methylation
genome wide analysis
amino acid