Adverse outcome in FAM111A variant: a case report
Back to course
Pdf Summary
Asset Subtitle
Presenting Author - Katherine Guilbo, BA; Co-Author - Jennifer Black, MS, CGC; Co-Author - Melissa C. Byler, CGC; Co-Author - Zafer Soultan, MD; Co-Author - Saurabh Gupta, MBBS; Co-Author - Prateek Wali, MD; Co-Author - Irene Cherrick, MD; Co-Author - Robert R. Lebel, MD, FACMG; Co-Author - Angela Wratney, MD;
Meta Tag
Congenital Anomaly
Musculoskeletal system
Phenotype
Pulmonary/respiratory malformations
Respiratory System
Co-Author Jennifer Black, MS, CGC
Co-Author Melissa C. Byler, CGC
Co-Author Zafer Soultan, MD
Co-Author Saurabh Gupta, MBBS
Co-Author Prateek Wali, MD
Co-Author Irene Cherrick, MD
Co-Author Robert R. Lebel, MD, FACMG
Co-Author Angela Wratney, MD
Presenting Author Katherine Guilbo, BA
Keywords
adverse outcome
FAM111A gene
Kenny-Caffey Syndrome
osteocraniostenosis
respiratory insufficiency
genetic testing
skeletal development
failure to thrive
G-tube
FAM111A-related disorder

© 2025 American College of Medical Genetics and Genomics. All rights reserved.

Powered By