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...

Descripció completa

Dades bibliogràfiques

Autors principals:	Manisha Goyal, Lalit Bharadia, Ashok Gupta, Udhaya H Kotecha
Format:	Artigo
Idioma:	Inglês
Publicat:	Wolters Kluwer Medknow Publications 2022-01-01
Col·lecció:	Indian Journal of Paediatric Dermatology
Matèries:	hyperpigmented lesion metaphyseal irregularities poikiloderma recql4 gene rothmund-thomson syndrome
Accés en línia:	http://www.ijpd.in/article.asp?issn=2319-7250;year=2022;volume=23;issue=4;spage=322;epage=324;aulast=Goyal
Etiquetes:	Afegir etiqueta Sense etiquetes, Sigues el primer a etiquetar aquest registre!