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Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation.
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Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation.
Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation. Hum Mutat. 2004 Feb; 23(2):147-159.
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PubMed
subject areas
Abnormalities, Multiple
Agenesis of Corpus Callosum
Cells, Cultured
Corpus Callosum
DNA Mutational Analysis
Female
Gene Expression Regulation
Genetic Linkage
Genitalia, Female
Genitalia, Male
Genotype
Homeodomain Proteins
Humans
Infant, Newborn
Lymphocytes
Magnetic Resonance Imaging
Male
Mutation
Mutation, Missense
Pedigree
Phenotype
Sex Chromosome Disorders
Transcription Factors
authors with profiles
Soma Das
William B. Dobyns