Infantile systemic hyalinosis – Report of two cases with identification of a novel gene mutation

Infantile systemic hyalinosis – Report of two cases with identification of a novel gene mutation

Infantile systemic hyalinosis (ISH; MIM #236490) and juvenile hyaline fibromatosis (MIM #228600) represent two spectrums of the rare autosomal recessive disorder, the hyaline fibromatosis syndrome caused by mutations in ANTXR2/CMG2 encoding capillary morphogenesis protein-2. Herein, we report two ca...

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Bibliographic Details
Main Authors: Sandipan Dhar, Rashmi Agarwal, Sahana M Srinivas, Subhra Dhar, Apurba Ghosh
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2022-01-01
Series:Indian Journal of Paediatric Dermatology
Subjects:
child
hyaline fibromatosis syndrome
infantile systemic hyalinosis
juvenile hyaline fibromatosis
Online Access:http://www.ijpd.in/article.asp?issn=2319-7250;year=2022;volume=23;issue=2;spage=126;epage=128;aulast=Dhar

Internet

http://www.ijpd.in/article.asp?issn=2319-7250;year=2022;volume=23;issue=2;spage=126;epage=128;aulast=Dhar

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