Journal article

A novel germ line mutation in SOX9 causes familial campomelic dysplasia and sex reversal

FJ Cameron, RM Hageman, C CookeYarborough, C Kwok, LL Goodwin, DO Sillence, AH Sinclair

Human Molecular Genetics | OXFORD UNIV PRESS UNITED KINGDOM | Published : 1996

DOI: 10.1093/hmg/5.10.1625

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Keywords

Sry-Related Gene
Biochemistry & Molecular Biology
Disorders of Sex Development
Disease
Family
Pregnancy
Locus
Genetics & Heredity
Female
Germ-Line Mutation
Science & Technology
Transcription Factors
Life Sciences & Biomedicine
Male
High Mobility Group Proteins
Osteochondrodysplasias
Siblings
Sex Differentiation
Camptomelic Syndrome
Sox9 Transcription Factor
Humans
Mosaicism