Rothmund–Thomson Syndrome with Predominant Cutaneous Features: A Rare Case Report of Two Male Siblings

Rothmund–Thomson syndrome (RTS) is a rare genodermatosis with only 300 cases reported till date. It manifests a wide array of symptoms affecting skin and skin appendages. It is attributed to mutation of the RECQL4 helicase gene, located on chromosome 8q24.3. The RECQL4 protein is essential for the i...

Full description

Saved in:
Bibliographic Details
Main Authors: Jyoti Budhwar, Guramrit Singh Mundi
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2025-04-01
Series:Indian Journal of Paediatric Dermatology
Subjects:
Online Access:https://journals.lww.com/10.4103/ijpd.ijpd_5_24
Tags: Add Tag
No Tags, Be the first to tag this record!