Keyphrases
Burden Analysis
7%
Clubfoot
100%
COL12A1
15%
COL9A3
15%
Disease Genes
30%
Ehlers-Danlos Syndrome
7%
Etiology
7%
European Ancestry
23%
Exome Sequencing
100%
Family Members
7%
GnomAD
7%
Heritability
7%
Hox Genes
7%
Large Cohort
7%
LMX1B
15%
Matched Control Group
7%
Multiple Ethnicities
7%
Multiplex Families
7%
Musculoskeletal Anomalies
7%
Myopathy
7%
Nail-patella Syndrome
7%
Non-Europeans
15%
Nonsyndromic
100%
Novel Disease Genes
100%
Phenotypic Expansion
7%
PITX1
7%
Proband
7%
Rare Variant Burden
7%
Rare Variants
15%
Segregation Analysis
7%
Sequence Data
7%
Ultra-rare
7%
Variable Penetrance
7%
Immunology and Microbiology
Exome
100%
Foot
100%
Heritability
100%
Patella
100%
Penetrance
100%
Whole Exome Sequencing
100%
Biochemistry, Genetics and Molecular Biology
COL9A3
66%
Exome
33%
Exome Sequencing
100%
LMX1B
66%
Penetrance
33%
PITX1
33%
Proband
33%
Rare Variant
100%
Medicine and Dentistry
Clubfoot
100%
Congenital Musculoskeletal Anomaly
7%
Diseases
100%
Ehlers Danlos Syndrome
7%
Exome
7%
Exome Sequencing
100%
Heritability
7%
Myopathy
7%
Nail Patella Syndrome
7%
Penetrance
7%
Segregation Analysis
7%