Mosaicism of a TCOF1 Mutation in an Individual Clinically Unaffected with Treacher Collins Syndrome

Keyphrases

• Mosaicism 100%
• TCOF1 100%
• Treacher Collins Syndrome 100%
• Skin Fibroblasts 33%
• Bulb 33%
• Autosomal Recessive 33%
• Gene mutation 33%
• Type-specific 33%
• Clinical Diagnosis 33%
• Stool 33%
• Craniofacial Development 33%
• Leukocytes 33%
• Cell-derived 33%
• Chromosomal Rearrangements 33%
• Mode of Inheritance 33%
• Heterozygous mutation 33%
• Gonadal Mosaicism 33%
• Grandparents 33%
• TCOF1 Gene 33%
• Buccal mucosa 33%
• Three Germ Layers 33%
• Autosomal Dominant Disorder 33%
• Mandibulofacial Dysostosis 33%
• Root Hair 33%

Biochemistry, Genetics and Molecular Biology

• Mosaicism 100%
• Treacher Collins Syndrome 100%
• Leukocyte 33%
• Gene Mutation 33%
• Craniofacial Development 33%
• Autosomal Recessive Inheritance 33%
• Autosomal Dominant Inheritance 33%
• Chromosomal Rearrangement 33%
• Germ Layer 33%
• Buccal Mucosa 33%
• Fibroblast 33%