Identification of 2 novel ANTXR2 mutations in patients with hyaline fibromatosis syndrome and proposal of a modified grading system
about
Gingival fibromatosis: clinical, molecular and therapeutic issuesDetection of fetal epigenetic biomarkers through genome-wide DNA methylation study for non-invasive prenatal diagnosis.CMG2/ANTXR2 regulates extracellular collagen VI which accumulates in hyaline fibromatosis syndromeAnkylosing spondylitis is associated with the anthrax toxin receptor 2 gene (ANTXR2).Diagnosis implications of the whole genome sequencing in a large Lebanese family with hyaline fibromatosis syndrome.Hyaline fibromatosis syndrome: cutaneous manifestationsHyaline Fibromatosis Syndrome: A Rare Inherited DisorderAnalysis of mutations in the SOS-1 gene in two Polish families with hereditary gingival fibromatosis.Hyaline fibromatosis syndrome resulting from a new homozygous missense mutation, p.Gly116Val, in ANTXR2.Unusual cause for gum hypertrophy and skin nodules in a child.Hyaline fibromatosis syndrome (juvenile hyaline fibromatosis): whole-body MR findings in two siblings with different subcutaneous nodules distribution.Juvenile hyaline fibromatosis: report of a rare case at an advanced stage with osteosclerosis and scoliosis.A complex role of anthrax toxin receptor 2 polymorphisms and capillary morphogenesis protein 2 in ankylosing spondylitis pathogenesis.Case-Control Study and Meta-Analysis Show a Weak Association between ANTXR2 Polymorphisms and Ankylosing Spondylitis in Chinese Han
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P2860
Identification of 2 novel ANTXR2 mutations in patients with hyaline fibromatosis syndrome and proposal of a modified grading system
description
im März 2012 veröffentlichter wissenschaftlicher Artikel
@de
scientific article published on 01 March 2012
@en
wetenschappelijk artikel
@nl
наукова стаття, опублікована у квітні 2012
@uk
name
Identification of 2 novel ANTX ...... l of a modified grading system
@en
Identification of 2 novel ANTX ...... l of a modified grading system
@nl
type
label
Identification of 2 novel ANTX ...... l of a modified grading system
@en
Identification of 2 novel ANTX ...... l of a modified grading system
@nl
prefLabel
Identification of 2 novel ANTX ...... l of a modified grading system
@en
Identification of 2 novel ANTX ...... l of a modified grading system
@nl
P2093
P2860
P50
P356
P1476
Identification of 2 novel ANTX ...... l of a modified grading system
@en
P2093
Cassio E Raposo-Amaral
Celso L Buzzo
Cesar A Raposo-Amaral
Nivaldo Alonso
P Suzanne Hart
Rafael F Stelini
Thomas Hart
P2860
P304
P356
10.1002/AJMG.A.35228
P407
P577
2012-03-01T00:00:00Z