The diagnostic dilemma of rothmund-thomson syndrome Type II: A rare disorder with a novel mutation in the RECQL4 gene in an Indian Boy

• मुख्य लेखकों: Manisha Goyal (लेखक), Lalit Bharadia (लेखक), Ashok Gupta (लेखक), Udhaya H Kotecha (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: Wolters Kluwer Medknow Publications, 2022-01-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: Connect to this object online.

Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder caused by homozygous or compound heterozygous mutations in RECQL4 gene and has characteristic clinical features of poikiloderma, congenital bone defects, gastrointestinal disturbances such as chronic diarrhea and vomiting, and an...