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Clinical features of affected individuals with NDC1 variants
(A) Pedigrees of four families with biallelic NDC1 variants. Affected individuals are depicted in black.
(B) Facial features of affected individuals 1-I, 1-II, 3-I, and 3-II. The lower panel in individual 1-I shows tongue fasciculations.
(C) Schematic drawing of the NDC1 protein in the nuclear envelope. The identified NDC1 variants and the interaction sites with ALADIN are depicted in the C-terminal NDC1 protein structure.
