Asset Details
Do you wish to reserve the book?
Dyskeratosis Congenita: Clinical Phenotype and Genetic Features in a Sibling Pair
Hey, we have placed the reservation for you!
By the way, why not check out events that you can attend while you pick your title.
Oops! Something went wrong.
Looks like we were not able to place the reservation. Kindly try again later.
Are you sure you want to remove the book from the shelf?
Dyskeratosis Congenita: Clinical Phenotype and Genetic Features in a Sibling Pair
Do you wish to request the book?
Dyskeratosis Congenita: Clinical Phenotype and Genetic Features in a Sibling Pair
Please be aware that the book you have requested cannot be checked out. If you would like to checkout this book, you can reserve another copy
We have requested the book for you!
Your request is successful and it will be processed during the Library working hours. Please check the status of your request in My Requests.
Oops! Something went wrong.
Looks like we were not able to place your request. Kindly try again later.
Journal Article
Dyskeratosis Congenita: Clinical Phenotype and Genetic Features in a Sibling Pair
2026
Overview
Dyskeratosis congenita (DC) is a rare, inherited bone marrow failure syndrome resulting from mutations in genes responsible for telomere maintenance. We report a familial case of DC in two brothers, who exhibited the classic diagnostic triad of reticulate skin pigmentation, oral leukoplakia, and nail dystrophy. Genetic analysis identified a rare, hemizygous missense mutation (c.92A>C, p.Gln31Pro) in the DKC1 gene. This case underscores the variable expressivity of DKC1 mutations and reinforces the importance of recognizing the characteristic mucocutaneous features for timely diagnosis and management of this multisystem disorder.
Publisher
Dove Medical Press Limited,Dove Press,Dove Medical Press
Subject
