Llwytho...
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...
Wedi'i Gadw mewn:
| Cyhoeddwyd yn: | Adv Genomics Genet |
|---|---|
| Prif Awduron: | , , , , , |
| Fformat: | Artigo |
| Iaith: | Inglês |
| Cyhoeddwyd: |
2018
|
| Pynciau: | |
| Mynediad Ar-lein: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6057141/ https://ncbi.nlm.nih.gov/pubmed/30050362 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2147/AGG.S159077 |
| Tagiau: |
Ychwanegu Tag
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!
|