Journal article

Mutation analysis of the SOX9 gene in a patient with campomelic dysplasia

RM Hageman, FJ Cameron, AH Sinclair

Human Mutation | WILEY-LISS | Published : 1998

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Keywords

Female
Life Sciences & Biomedicine
Adult
Campomelic Dysplasia
Mutation Analysis
Transcription Factors
Sry-Related Gene
Point Mutation
High Mobility Group Proteins
Dna
Science & Technology
Sox9
Infant
Autosomal Sex Reversal
Sox9 Transcription Factor
Codon, Terminator
Fatal Outcome
Dna Mutational Analysis
Polymorphism, Single-Stranded Conformational
Child, Preschool
Humans
Male
Osteochondrodysplasias
Genetics & Heredity