A study of the clinical and radiological features in a cohort of 93 patients with aCOL2A1mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype
about
The utility of mouse models to provide information regarding the pathomolecular mechanisms in human genetic skeletal diseases: The emerging role of endoplasmic reticulum stress (Review).A pilot study of gene testing of genetic bone dysplasia using targeted next-generation sequencing.Evaluation of 10 AMD Associated Polymorphisms as a Cause of Choroidal Neovascularization in Highly Myopic EyesA novel mutation in the C-propeptide of COL2A1 causes atypical spondyloepiphyseal dysplasia congenita.Mutation Update for COL2A1 Gene Variants Associated with Type II Collagenopathies.Recurrent c.G1636A (p.G546S) mutation of COL2A1 in a Chinese family with skeletal dysplasia and different metaphyseal changes: a case report.Genetics of Short Stature.The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype.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.A Rare Form of Corneal Opacity Associated with Spondyloepiphyseal Dysplasia Congenita.Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies.Autosomal recessive brachyolmia: early radiological findings.Association between Kniest dysplasia and chondrosarcoma in a child.
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A study of the clinical and radiological features in a cohort of 93 patients with aCOL2A1mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype
description
im Januar 2015 veröffentlichter wissenschaftlicher Artikel
@de
scientific article published on 21 January 2015
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wetenschappelijk artikel
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наукова стаття, опублікована в січні 2015
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name
A study of the clinical and ra ...... ngenita or a related phenotype
@en
A study of the clinical and ra ...... ngenita or a related phenotype
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type
label
A study of the clinical and ra ...... ngenita or a related phenotype
@en
A study of the clinical and ra ...... ngenita or a related phenotype
@nl
prefLabel
A study of the clinical and ra ...... ngenita or a related phenotype
@en
A study of the clinical and ra ...... ngenita or a related phenotype
@nl
P2093
P2860
P50
P356
P1476
A study of the clinical and ra ...... ngenita or a related phenotype
@en
P2093
Albert David
Alison Male
Andreas Zankl
André Mégarbané
Anne Dieux
Annemarie H van der Hout
Annick Raas-Rothschild
Barbara Schroeter
Bronwyn Kerr
Carlo Marcelis
P2860
P304
P356
10.1002/AJMG.A.36922
P407
P50
P577
2015-01-21T00:00:00Z