Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations
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Novel Candidate Genes and a Wide Spectrum of Structural and Point Mutations Responsible for Inherited Retinal Dystrophies Revealed by Exome SequencingWhole Genome Sequencing Revealed Mutations in Two Independent Genes as the Underlying Cause of Retinal Degeneration in an Ashkenazi Jewish Pedigree.Axial spondylometaphyseal dysplasia is also caused by NEK1 mutations.Compound Heterozygosity for Null Mutations and a Common Hypomorphic Risk Haplotype in TBX6 Causes Congenital Scoliosis.Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies.Homozygous variant in C21orf2 in a case of Jeune syndrome with severe thoracic involvement: Extending the phenotypic spectrum.
P2860
Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations
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2016 nî lūn-bûn
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2016 թուականի Յունուարին հրատարակուած գիտական յօդուած
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2016 թվականի հունվարին հրատարակված գիտական հոդված
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2016年の論文
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2016年学术文章
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2016年学术文章
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Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations
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Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations
@en
Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations
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type
label
Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations
@ast
Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations
@en
Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations
@nl
prefLabel
Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations
@ast
Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations
@en
Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations
@nl
P2093
P2860
P50
P1433
P1476
Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations
@en
P2093
Abdulrahman Alswaid
Albert David
Aritoshi Iida
Bertrand Isidor
Cecilie F Rustad
Else Merckoll
Eva-Lena Stattin
Gen Nishimura
Gye-Yeon Lim
Hirohumi Ohashi
P2860
P304
P356
10.1371/JOURNAL.PONE.0150555
P407
P577
2016-03-14T00:00:00Z