A novel six3 mutation segregates with holoprosencephaly in a large family

Keyphrases

• Holoprosencephaly 100%
• Large Families 100%
• Six3 100%
• Gene mutation 66%
• Clinical Manifestations 33%
• Pedigree 33%
• Forebrain 33%
• Clinical Characterization 33%
• Novel mutation 33%
• Genomic Profiling 33%
• Chromosome 2 33%
• Linkage Analysis 33%
• Environmental Components 33%
• Gene Carrier 33%
• Postnatal Life 33%
• Chromosomal Aberrations 33%
• Normal Adults 33%
• Scanpath Analysis 33%
• Kindred 33%
• Congenital Anomalies 33%
• Female Infant 33%
• Complex Etiology 33%
• Structural Deformity 33%
• Genome-wide Linkage 33%
• Non-penetrance 33%
• Alobar 33%
• Molecular Genetic Analysis 33%
• Single-point mutation 33%

Biochemistry, Genetics and Molecular Biology

• Gene Mutation 100%
• SIX3 66%
• Genetics 33%
• Molecular Genetics 33%
• Linkage Analysis 33%
• Chromosomal Aberration 33%
• Missense Mutation 33%
• Pedigree 33%
• Chromosome 2 33%
• Penetrance 33%
• Gene Linkage 33%