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Fig. 5 | Orphanet Journal of Rare Diseases

Fig. 5

From: Clinical and genetic characteristics of Chinese patients with familial or sporadic pediatric cataract

Fig. 5

Pedigree and variants in BCOR, IARS2, and NHS. These schematics show the encoded domain structure of BCOR (a), IARS2 (b), and NHS (c). BCOR and NHS are X-linked genes. The variants found in this study are illustrated above the schematics. Probands are indicated by arrows. A dotted circle indicates an obligate X-linked carrier. +/− indicates heterozygous individual, −/− indicates individual testing negative, +/0 indicates hemizygote testing positive, −/0 indicates hemizygote testing negative. W1: Wild Type 1, W2: Wild Type 2, W3: Wild Type 3, M1: Mutant Type 1, M2: Mutant Type 2, M3: Mutant Type 3

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172