Congenital Hypotonia: Cracking a SAGA of consanguineous kindred harboring four genetic variants

Keyphrases

• Genetic Variants 100%
• Kindred 100%
• Consanguineous 100%
• Congenital Hypotonia 100%
• Population Screening 66%
• Pedigree 66%
• Genetic Screening 33%
• High Prevalence 33%
• Linkage Analysis 33%
• Extended Family 33%
• Nuclear Family 33%
• Accurate Determination 33%
• Western Blot Analysis 33%
• High-risk Population 33%
• Genetic Diagnosis 33%
• Genetic Disease 33%
• Prenatal Diagnosis 33%
• Genetic Counseling 33%
• Protein Level 33%
• MRNA Level 33%
• Whole Exome Sequencing 33%
• First-tier 33%
• Genetic Basis 33%
• Homozygosity Mapping 33%
• Biological Basis 33%
• Clinical Investigation 33%
• Consanguineous Family 33%
• Family Screening 33%
• Compound Heterozygous mutation 33%
• Affected Siblings 33%
• Multiple children 33%
• Novel Nonsense Variant 33%
• NGLY1 33%
• Whole-exome Genome Sequencing 33%
• RYR1 33%
• Families with multiples 33%

Biochemistry, Genetics and Molecular Biology

• Genetics 100%
• Genetic Divergence 100%
• Mass Screening 100%
• Pedigree 100%
• Messenger RNA 50%
• Linkage Analysis 50%
• Exome 50%
• Genetic Counseling 50%
• Genetic Disorder 50%
• Genome Sequencing 50%
• Compound Heterozygosity 50%
• Prevalence 50%
• Exome Sequencing 50%
• Genetic Screening 50%
• High Risk Population 50%
• Homozygosity 50%
• RYR1 50%
• Western Blot 50%