Expanding phenotype with severe midline brain anomalies and missense variant supports a causal role for FOXA2 in 20p11.2 deletion syndrome

Author:

Dines Jennifer N.12ORCID,Liu Yajuan J.3ORCID,Neufeld‐Kaiser Whitney3,Sawyer Taylor4,Ishak Gisele E.5,Tully Hannah M.67,Racobaldo Melissa8,Sanchez‐Valle Amarilis8,Disteche Christine M.13,Juusola Jane9,Torti Erin9,McWalter Kirsty9,Doherty Dan26,Dipple Katrina M.210

Affiliation:

1. Department of Medicine, Division of Medical GeneticsUniversity of Washington Seattle Washington

2. Department of Pediatrics, Division of Genetic MedicineUniversity of Washington/Seattle Children's Hospital Seattle Washington

3. Department of PathologyUniversity of Washington School of Medicine Seattle Washington

4. Department of Pediatrics, Division of NeonatologyUniversity of Washington Seattle Washington

5. Department of RadiologyUniversity of Washington, Seattle Children's Hospital Seattle Washington

6. Center for Integrative Brain ResearchSeattle Children's Research Institute Seattle Washington

7. Division of Pediatric NeurologySeattle Children's Hospital Seattle Washington

8. Division of Genetics and MetabolismUniversity of South Florida Tampa Florida

9. GeneDx, Inc. Gaithersburg Maryland

10. Center for Clinical and Translational ResearchSeattle Children's Research Institute Seattle Washington

Funder

National Institute of General Medical Sciences

Publisher

Wiley

Subject

Genetics(clinical),Genetics

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