Literature DB >> 33911680

A Case of Hyaline Fibromatosis Syndrome with a New Variant of Genetic Mutation in ANTXR2 Gene.

Chan Seong Park1, Jongeun Lee1, Hyun Jeong Byun1, Youngkyoung Lim1, Ji-Hye Park1, Jong Hee Lee1, Dong-Youn Lee1, Joo-Heung Lee1, Jun-Mo Yang1, Jee Hun Lee2, So-Young Yoo3.   

Abstract

Entities:  

Year:  2019        PMID： 33911680      PMCID： PMC7997064          DOI： 10.5021/ad.2019.31.S.S12

Source DB:  PubMed          Journal:  Ann Dermatol        ISSN： 1013-9087            Impact factor:   1.444


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  4 in total

1.  Human capillary morphogenesis protein 2 functions as an anthrax toxin receptor.

Authors:  Heather M Scobie; G Jonah A Rainey; Kenneth A Bradley; John A T Young
Journal:  Proc Natl Acad Sci U S A       Date:  2003-04-16       Impact factor: 11.205

2.  Mutations in capillary morphogenesis gene-2 result in the allelic disorders juvenile hyaline fibromatosis and infantile systemic hyalinosis.

Authors:  Oonagh Dowling; Analisa Difeo; Maria C Ramirez; Turgut Tukel; Goutham Narla; Luisa Bonafe; Hulya Kayserili; Memnune Yuksel-Apak; Amy S Paller; Karen Norton; Ahmad S Teebi; Valerie Grum-Tokars; Gail S Martin; George E Davis; Marc J Glucksman; John A Martignetti
Journal:  Am J Hum Genet       Date:  2003-09-12       Impact factor: 11.025

3.  Juvenile hyaline fibromatosis and infantile systemic hyalinosis overlap associated with a novel mutation in capillary morphogenesis protein-2 gene.

Authors:  Richard J Antaya; Mariana M Cajaiba; Joseph Madri; Maria A Lopez; Maria Celeste M Ramirez; John A Martignetti; Miguel Reyes-Múgica
Journal:  Am J Dermatopathol       Date:  2007-02       Impact factor: 1.533

4.  Hyaline Fibromatosis Syndrome: A Rare Inherited Disorder.

Authors:  Meeta Dipak Mantri; Mahajan M Pradeep; Patil O Kalpesh; Raj J Pranavsinh
Journal:  Indian J Dermatol       Date:  2016 Sep-Oct       Impact factor: 1.494
  4 in total

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