Extended Data Fig. 5: Photographs of hands and feet of patients with RNU4-2 or RNU5B-1 LP/P variants. | Nature Genetics

Extended Data Fig. 5: Photographs of hands and feet of patients with RNU4-2 or RNU5B-1 LP/P variants.

From: Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption

Extended Data Fig. 5: Photographs of hands and feet of patients with RNU4-2 or RNU5B-1 LP/P variants.

a, Individuals with the RNU4-2 n.64_65insT variant. Please note the presence of vasomotor disorders (h,n), foot edema (o) and long fingers (h,i,p,q). The patient identification letters are the same as in Fig. 4. b, Individuals with other variants in RNU4-2. (i), n.65A>G; (iii) and (iv), n.66A>G; (v), n.67A>G; (viii)–(x), n.76C>T; (xii), n.77_78insT. The patient identification letters are the same as in Fig. 5a. c, Individual with the RNU5B-1 n.39C>G variant. The patient identification letters are the same as in Fig. 5b.

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