Identification of 2 novel ANTXR2 mutations in patients with hyaline fibromatosis syndrome and proposal of a modified grading system-Reference-Cited by-同舟云学术

Identification of 2 novel ANTXR2 mutations in patients with hyaline fibromatosis syndrome and proposal of a modified grading system

Published:2012-03-01 Issue:4 Volume:158A Page:732-742
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Denadai Rafael,Raposo-Amaral Cassio E.,Bertola Débora,Kim Chong,Alonso Nivaldo,Hart Thomas,Han Sangwoo,Stelini Rafael F.,Buzzo Celso L.,Raposo-Amaral Cesar A.,Hart P. Suzanne

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.35228/fullpdf

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3. Hyaline fibromatosis syndrome inducing mutations in the ectodomain of anthrax toxin receptor 2 can be rescued by proteasome inhibitors;Deuquet;EMBO Mol Med,2011

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5. Mutations in capillary morphogenesis gene-2 result in the allelic disorders juvenile hyaline fibromatosis and infantile systemic hyalinosis;Dowling;Am J Hum Genet,2003

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