Modeling the long-range effect of an inversion downstream of EFNB1 concludes a 43-year molecular diagnostic odyssey for craniofrontonasal syndrome

Dong Li(Children's Hospital of Philadelphia), Elaine H. Zackai(Children's Hospital of Philadelphia), Cuiping Hou(Children's Hospital of Philadelphia), Jesse A. Taylor(Children's Hospital of Philadelphia), Linton A. Whitáker(Children's Hospital of Philadelphia), Donna M. McDonald‐McGinn(Children's Hospital of Philadelphia), Håkon Håkonarson(Children's Hospital of Philadelphia), Sarah Donoghue(Children's Hospital of Philadelphia), Elizabeth Bhoj(Children's Hospital of Philadelphia), Alanna Strong(Children's Hospital of Philadelphia), Leticia S. Matsuoka(Children's Hospital of Philadelphia)
European Journal of Human Genetics
June 9, 2025
10.1038/s41431-025-01887-w
Cited by 0

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