Whole exome sequencing combined with linkage analysis identifies a novel 3 bp deletion in NR5A1

Keyphrases

• Whole Exome Sequencing 100%
• Disorders of Sex Development 100%
• NR5A1 100%
• Linkage Analysis 100%
• Premature Ovarian Insufficiency 66%
• 46,XX 66%
• 46,XY Disorders of Sex Development 66%
• Gonad Development 66%
• Accurate Diagnosis 33%
• Exon 33%
• Whole Exome 33%
• Low Coverage 33%
• Downstream Genes 33%
• All-affected 33%
• Large Families 33%
• Genotype 33%
• Ovarian Function 33%
• In-frame Deletion 33%
• Gonad 33%
• Testis Development 33%
• Chromosome 9 33%
• Steroidogenic Enzymes 33%
• Gain-of-function Variant 33%
• Exome Capture 33%
• Genitalia 33%
• Massively Parallel Sequencing 33%
• Steroidogenic Pathway 33%
• Genetic Etiology 33%
• Development Pathways 33%
• Gain-of-function mutation 33%
• Steroidogenesis 33%
• Large Pedigree 33%
• Disease Variants 33%

Biochemistry, Genetics and Molecular Biology

• Exome Sequencing 100%
• Linkage Analysis 100%
• Gonad Development 66%
• Genetics 33%
• Deep Sequencing 33%
• Gene Linkage 33%
• Exon 33%
• Exome 33%
• Ovary Function 33%
• Testis Development 33%
• Chromosome 9 33%
• Pedigree 33%
• Steroid Biosynthesis 33%
• Steroidogenic Factor 1 33%