A5030224443- Alkaline Phosphatase Research Studies
- Biochemical and Molecular Research
- Heterotopic Ossification and Related Conditions
- Craniofacial Disorders and Treatments
- RNA Research and Splicing
- Congenital heart defects research
- Congenital Diaphragmatic Hernia Studies
- RNA modifications and cancer
- Wnt/β-catenin signaling in development and cancer
- Selenium in Biological Systems
- RNA and protein synthesis mechanisms
- Bone health and treatments
- Dermatological and Skeletal Disorders
- Congenital gastrointestinal and neural anomalies
- Connective tissue disorders research
- Genomic variations and chromosomal abnormalities
University of Missouri–Kansas City
2023-2024
Children's Mercy Hospital
2023-2024
Mercy Hospital
2023
ABSTRACT Haploinsufficiency of SF3B2 is associated with craniofacial microsomia, characterized by mandibular hypoplasia and microtia, often preauricular tags or pits, epibulbar dermoids, cleft palate. In addition, extracraniofacial anomalies may be present, such as skeletal, cardiac renal, abnormalities the central nervous system. Variants have been either de novo inherited, both inter‐ intrafamilial variability has observed. Here we describe a patient referred for exome sequencing complex...