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. Author manuscript; available in PMC: 2021 Jan 18.
Published in final edited form as: Clin Genet. 2020 Mar 5;97(5):764–769. doi: 10.1111/cge.13722

Figure 1: Genetic characterisation of a nanophthalmos and posterior microphthalmos cohort.

Figure 1:

(A) Self-reported ancestry of the 13 probands.

(B) Proportion of probands with suspected pathogenic variants in the indicated genes.

(C) Pedigrees grouped by affected gene. Asterisks indicate previously reported pedigrees.

(D) Schematic of loci and variants identified.

(E) Protein schematics with variants identified. C, cytoplasmic domain; TM, transmembrane domain; CUB, Complement C1r/C1s, Uegf, Bmp1 domain; L, LDL-receptor class A domain; FZ, frizzled domain; CC, coiled-coil domain.