Autosomal recessive Stickler syndrome due to a loss of function mutation in the COL9A3 gene.
about
Endoplasmic Reticulum Stress and Unfolded Protein Response in Cartilage Pathophysiology; Contributing Factors to Apoptosis and Osteoarthritis.A novel mutation in the COL2A1 gene in a patient with Stickler syndrome type 1: a case report and review of the literatureInsight into the molecular genetics of myopia.Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families.
P2860
Autosomal recessive Stickler syndrome due to a loss of function mutation in the COL9A3 gene.
description
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name
Autosomal recessive Stickler s ...... n mutation in the COL9A3 gene.
@en
Autosomal recessive Stickler s ...... n mutation in the COL9A3 gene.
@nl
type
label
Autosomal recessive Stickler s ...... n mutation in the COL9A3 gene.
@en
Autosomal recessive Stickler s ...... n mutation in the COL9A3 gene.
@nl
prefLabel
Autosomal recessive Stickler s ...... n mutation in the COL9A3 gene.
@en
Autosomal recessive Stickler s ...... n mutation in the COL9A3 gene.
@nl
P2093
P2860
P50
P356
P1476
Autosomal recessive Stickler s ...... n mutation in the COL9A3 gene.
@en
P2093
Irene Bruno
Laura Esposito
Paolo Gasparini
Saskia Biskup
P2860
P356
10.1002/AJMG.A.36165
P407
P577
2013-11-22T00:00:00Z