Kabuki syndrome is not caused by a microdeletion in the DiGeorge/velocardiofacial chromosomal region within 22q 11.2.
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The C20orf133 gene is disrupted in a patient with Kabuki syndromeCongenital heart defects in Kabuki syndrome.The C20orf133 gene is disrupted in a patient with Kabuki syndrome.Kabuki syndrome: new ocular findings but no evidence of 8p22-p23.1 duplications in a clinically defined cohort.Thirteen cases of Niikawa-Kuroki syndrome: report and review with emphasis on medical complications and preventive management.Craniofacial and dental features in kabuki syndrome patients.Atypical findings in Kabuki syndrome: report of 8 patients in a series of 20 and review of the literature.Neonatal phenotype in Kabuki syndrome.Kabuki syndrome: Clinical data in 20 patients, literature review, and further guidelines for preventive management.Patellar dislocation in Kabuki syndrome.
P2860
Q28512053-B73BC8E3-A78D-4276-A16A-CACDFE43DD9DQ34245051-AE40EF6F-E45E-489E-96B7-128DFB1DC0E6Q34531748-D34613E2-3DDC-4EF7-9145-7E3398649E75Q36078059-4516D311-1288-4C28-B292-DAB066E8A4E8Q41926163-18F283AB-FF65-4F2A-813B-4DB842E706C1Q50782264-5635A06F-461E-46BC-9FBF-8F1C8938D597Q51938985-BC73E1F0-71E6-468C-B6F2-8DD6DA51EEADQ52058582-7827A59C-F2AD-46E9-BCB7-B4AA57A57719Q52058585-34581EAB-24DB-4DE6-AE17-AF46B43455B3Q52123539-DA8B501B-B9CE-4778-B472-87BFE496AAB4
P2860
Kabuki syndrome is not caused by a microdeletion in the DiGeorge/velocardiofacial chromosomal region within 22q 11.2.
description
1996 nî lūn-bûn
@nan
1996年の論文
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1996年学术文章
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1996年学术文章
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1996年学术文章
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1996年学术文章
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1996年学术文章
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1996年学术文章
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1996年學術文章
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name
Kabuki syndrome is not caused ...... osomal region within 22q 11.2.
@en
Kabuki syndrome is not caused ...... osomal region within 22q 11.2.
@nl
type
label
Kabuki syndrome is not caused ...... osomal region within 22q 11.2.
@en
Kabuki syndrome is not caused ...... osomal region within 22q 11.2.
@nl
prefLabel
Kabuki syndrome is not caused ...... osomal region within 22q 11.2.
@en
Kabuki syndrome is not caused ...... osomal region within 22q 11.2.
@nl
P2093
P2860
P1476
Kabuki syndrome is not caused ...... osomal region within 22q 11.2.
@en
P2093
P2860
P304
P356
10.1002/(SICI)1096-8628(19961016)65:2<101::AID-AJMG3>3.0.CO;2-V
P577
1996-10-01T00:00:00Z