FIGURE

Fig. 1

ID

ZDB-FIG-210916-12

Publication

Jones et al., 2021 - A 127 kb truncating deletion of PGRMC1 is a novel cause of X-linked isolated paediatric cataract

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Fig. 1

Pedigree of family CRVEEH66 and candidate variant status.

The previously studied CRVEEH66 family [12]. An ophthalmologist confirmed cataract affection status and no clinically significant lens opacity was observed in females. Segregation of 127 kb deletion (Del), at Xq24, is displayed. All affected males are hemizygous for the deletion and obligate female carriers are heterozygous for the variant (Del/WT) as is female IV:14.

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

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