TCOF1-related Treacher Collins syndrome: Report of a clinically unaffected parent with mosaicism
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Presenting Author - Laura Cross, MS, CGC; Co-Author - Joseph T. Alaimo, PhD, FACMG; Co-Author - Shivarajan M. Amudhavalli, MD;
Meta Tag
Congenital Anomaly
Counseling
Dysmorphology
Etiology
Exome sequencing
Genetic Diversity
Genetic Testing
Inheritance Patterns
Molecular Pathophysiology
Phenotype
Risk Assessment
Sequencing
Co-Author Joseph T. Alaimo, PhD, FACMG
Co-Author Shivarajan M. Amudhavalli, MD
Presenting Author Laura Cross, MS, CGC
Keywords
Treacher Collins syndrome
craniofacial abnormalities
micrognathia
malar hypoplasia
TCOF1
genetic testing
mosaicism
genetic counseling
recurrence risks
genetic disorders

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