Protein-losing enteropathy and joint contractures caused by a novel homozygous ANTXR2 mutation

Infantile systemic hyalinosis (ISH) is a rare autosomal recessive disorder and an allelic form of hyaline fibromatosis syndrome that is caused by mutations in the ANTRX2 gene encoding the transmembrane anthrax toxin receptor 2. Its main features include characteristic skin lesions, joint contracture...

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Detalles Bibliográficos
Autores principales: Schussler, Edith, Linkner, Rita V, Levitt, Jacob, Mehta, Lakshmi, Martignetti, John A, Oishi, Kimihiko
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6057141/
https://www.ncbi.nlm.nih.gov/pubmed/30050362
http://dx.doi.org/10.2147/AGG.S159077

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6057141/
https://www.ncbi.nlm.nih.gov/pubmed/30050362
http://dx.doi.org/10.2147/AGG.S159077

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