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

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

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...

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Bibliographic Details
Main Authors: Manisha Goyal, Lalit Bharadia, Ashok Gupta, Udhaya H Kotecha
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2022-01-01
Series:Indian Journal of Paediatric Dermatology
Subjects:
hyperpigmented lesion
metaphyseal irregularities
poikiloderma
recql4 gene
rothmund-thomson syndrome
Online Access:http://www.ijpd.in/article.asp?issn=2319-7250;year=2022;volume=23;issue=4;spage=322;epage=324;aulast=Goyal

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http://www.ijpd.in/article.asp?issn=2319-7250;year=2022;volume=23;issue=4;spage=322;epage=324;aulast=Goyal

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