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TBX6 null variants and a common hypomorphic allele in congenital scoliosis.
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TBX6 null variants and a common hypomorphic allele in congenital scoliosis.
TBX6 null variants and a common hypomorphic allele in congenital scoliosis. N Engl J Med. 2015 Jan 22; 372(4):341-50.
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PubMed
subject areas
Adolescent
Child
Child, Preschool
Chromosomes, Human, Pair 16
DNA Copy Number Variations
Female
Genetic Predisposition to Disease
Genotype
Humans
Male
Mutation
Pedigree
Phenotype
Radiography
Scoliosis
Sequence Deletion
Spine
T-Box Domain Proteins
authors with profiles
SAU WAI CHEUNG
JAMES LUPSKI
VERNON SUTTON
PENGFEI LIU