FIGURE

Fig. 3

ID

ZDB-FIG-250110-170

Publication

Singh et al., 2024 - Biallelic variants in CCN2 underlie an autosomal recessive kyphomelic dysplasia

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Fig. 3

Bowing of long bones in the affected individuals.

Radiographs of limbs of probands: proband 1 at 15 years (A), proband 2 at 11 years (B) and proband 3 at 3 years of age (C–F) show bowing of long bones. Bowing of femur (A and B), bowing of the tibia and fibula (A, C, D) can be observed. Irregular epiphyses and metaphyses along with flaring of metaphyses at the knee joint can be noted (D). Variable platyspondyly can be observed in all (G–I).

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

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