Pathogenic evidence of the mutation in KDM6A gene. It shows the novel splicing mutation in KDM6A gene and the predication scores in various available predictive tools. We found PolyPhen-2, SIFT no predictiveed score, MutationTaster predictive was disease causing, GERP++_Predict is predicted Conserved result. SPIDEX predict score is ââ10.9497, so the splicing mutation is likely pathogenic. (DOCX 15 kb
Kabuki syndrome (KS) is a rare genetic syndrome characterized by a typical facial gestalt, variable ...
Table S1. The expression levels of the 153 targeted genes in brain. Table S2. The quality assurance ...
Kabuki syndrome (KS) is a rare but recognizable condition that consists of a characteristic face, sh...
Figure S1. Sanger sequencing confirmed a heterozygous mutation in KMT2D. The de novo heterozygous mu...
Abstract Background Kabuki syndrome (KS) is a rare congenital anomaly syndrome affecting multiple or...
Kabuki syndrome (KS) is a rare but recognizable condition that consists of a characteristic face, sh...
Kabuki syndrome (KS) is a rare but recognizable condition that consists of a characteristic face, sh...
Table S2. Bioinformatics predictions of splicing defects for CLDN16 exonic mutations and comparison ...
Table S1. Lab data (Nov 2015, age 24 months). Table S2. Current Gene list for Congenital immune defe...
Table S1. Recessive variants found in at least two affected children of different trios. Possibly pa...
Figure S1. DNA sequence analysis of the exon 9 of GNAS gene. Figure S1 DNA sequence analysis of the ...
In silico analysis of the functional effect of the variants identified in the patients with NCL1 and...
Item does not contain fulltextPURPOSE: The variant spectrum and the phenotype of X-linked Kabuki syn...
Kabuki syndrome (KS) is one of the classical, clinically well-known multiple anomalies/mental retard...
IVA analysis of WGS data. Filters applied (see methods) revealed 3 variants in 3 genes (NT5C2, NINL ...
Kabuki syndrome (KS) is a rare genetic syndrome characterized by a typical facial gestalt, variable ...
Table S1. The expression levels of the 153 targeted genes in brain. Table S2. The quality assurance ...
Kabuki syndrome (KS) is a rare but recognizable condition that consists of a characteristic face, sh...
Figure S1. Sanger sequencing confirmed a heterozygous mutation in KMT2D. The de novo heterozygous mu...
Abstract Background Kabuki syndrome (KS) is a rare congenital anomaly syndrome affecting multiple or...
Kabuki syndrome (KS) is a rare but recognizable condition that consists of a characteristic face, sh...
Kabuki syndrome (KS) is a rare but recognizable condition that consists of a characteristic face, sh...
Table S2. Bioinformatics predictions of splicing defects for CLDN16 exonic mutations and comparison ...
Table S1. Lab data (Nov 2015, age 24 months). Table S2. Current Gene list for Congenital immune defe...
Table S1. Recessive variants found in at least two affected children of different trios. Possibly pa...
Figure S1. DNA sequence analysis of the exon 9 of GNAS gene. Figure S1 DNA sequence analysis of the ...
In silico analysis of the functional effect of the variants identified in the patients with NCL1 and...
Item does not contain fulltextPURPOSE: The variant spectrum and the phenotype of X-linked Kabuki syn...
Kabuki syndrome (KS) is one of the classical, clinically well-known multiple anomalies/mental retard...
IVA analysis of WGS data. Filters applied (see methods) revealed 3 variants in 3 genes (NT5C2, NINL ...
Kabuki syndrome (KS) is a rare genetic syndrome characterized by a typical facial gestalt, variable ...
Table S1. The expression levels of the 153 targeted genes in brain. Table S2. The quality assurance ...
Kabuki syndrome (KS) is a rare but recognizable condition that consists of a characteristic face, sh...