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 AhmadPublished 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.