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. Author manuscript; available in PMC: 2022 Nov 1.
Published in final edited form as: Clin Genet. 2021 Jul 30;100(5):542–550. doi: 10.1111/cge.14037

Figure 1.

Figure 1.

Gender distribution (A) proportion of consanguinity (B) proportion of novel and known variants (C) genetic testing performed and diagnostic yield (D) homozygous variants in consanguineous and non-consanguineous families observed in the present cohort. CMA- chromosomal microarray, WES- Whole exome sequencing.