Figure S1. Sanger sequencing confirmed a heterozygous mutation in KMT2D. The de novo heterozygous mutation c.8200C > T, p(Arg2734*) in exon 32 in KMT2D was identified by targeted exome sequencing and confirmed by Sanger sequencing analysis. (PDF 73 kb
Analysis of loss of heterozygosity (LOH) by single-nucleotide polymorphism (SNP) arrays. (A) Chromos...
Mutation analysis of the GPD1 gene in the proband and her parents. The patient was a homozygote and ...
Kabuki syndrome (KS) is a rare genetic disease with a distinctive dysmorphic face, intellectual disa...
Abstract Background Kabuki syndrome is characterized by distinctive facial features and varying degr...
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...
Abstract Background Kabuki syndrome (KS) is a rare pediatric congenital disorder with multiple conge...
Kabuki syndrome (KS) is a rare but recognizable condition that consists of a characteristic face, sh...
Purpose: To investigate if specific exon 38 or 39 KMT2D missense variants (MVs) cause a condition di...
Kabuki syndrome (KS) is a rare genetic syndrome characterized by a typical facial gestalt, variable ...
Schematic presentation of the deletion mutation predicted by a read depth-based copy number variatio...
Kabuki syndrome (KS) is a dominantly inherited rare disease caused mainly by de novo pathogenic vari...
Figure S1. DNA sequence analysis of the exon 9 of GNAS gene. Figure S1 DNA sequence analysis of the ...
Purpose To investigate if specific exon 38 or 39 KMT2D missense variants (MVs) cause a condition dis...
Pathogenic evidence of the mutation in KDM6A gene. It shows the novel splicing mutation in KDM6A gen...
Analysis of loss of heterozygosity (LOH) by single-nucleotide polymorphism (SNP) arrays. (A) Chromos...
Mutation analysis of the GPD1 gene in the proband and her parents. The patient was a homozygote and ...
Kabuki syndrome (KS) is a rare genetic disease with a distinctive dysmorphic face, intellectual disa...
Abstract Background Kabuki syndrome is characterized by distinctive facial features and varying degr...
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...
Abstract Background Kabuki syndrome (KS) is a rare pediatric congenital disorder with multiple conge...
Kabuki syndrome (KS) is a rare but recognizable condition that consists of a characteristic face, sh...
Purpose: To investigate if specific exon 38 or 39 KMT2D missense variants (MVs) cause a condition di...
Kabuki syndrome (KS) is a rare genetic syndrome characterized by a typical facial gestalt, variable ...
Schematic presentation of the deletion mutation predicted by a read depth-based copy number variatio...
Kabuki syndrome (KS) is a dominantly inherited rare disease caused mainly by de novo pathogenic vari...
Figure S1. DNA sequence analysis of the exon 9 of GNAS gene. Figure S1 DNA sequence analysis of the ...
Purpose To investigate if specific exon 38 or 39 KMT2D missense variants (MVs) cause a condition dis...
Pathogenic evidence of the mutation in KDM6A gene. It shows the novel splicing mutation in KDM6A gen...
Analysis of loss of heterozygosity (LOH) by single-nucleotide polymorphism (SNP) arrays. (A) Chromos...
Mutation analysis of the GPD1 gene in the proband and her parents. The patient was a homozygote and ...
Kabuki syndrome (KS) is a rare genetic disease with a distinctive dysmorphic face, intellectual disa...
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