Expanding the phenotypic spectrum of NOTCH1 variants: clinical manifestations in families with congenital heart disease.
Stanley KJ, Kalbfleisch KJ, Moran OM, Chaturvedi RR, Roifman M, Chen X, Manshaei R, Martin N, McDermott S, McNiven V, Myles-Reid D, Nield LE, Reuter MS, Schwartz MLB, Shannon P, Silver R, Somerville C, Teitelbaum R, Zahavich L, Bassett AS, Kim RH, Mital S, Chitayat D, Jobling RK.
Stanley KJ, et al. Among authors: kim rh.
Eur J Hum Genet. 2024 May 22. doi: 10.1038/s41431-024-01629-4. Online ahead of print.
Eur J Hum Genet. 2024.
PMID: 38778082