FIGURE

Fig. 2

ID
ZDB-FIG-250110-169
Publication
Singh et al., 2024 - Biallelic variants in CCN2 underlie an autosomal recessive kyphomelic dysplasia
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Fig. 2

Kyphomelic femora in the participants.

Radiographs of pelvis [proband 1 at 15 years (A), proband 2 at 11 years (B) and proband 3 at 3 years of age (C)] show short and broad pelvis, coxa vara and reduced hip joint space in all. Kyphotic femora are seen in all of them but is more prominent (arrows) in the younger proband 3 (C).

Expression Data

Expression Detail
Antibody Labeling
Phenotype Data

Phenotype Detail
Acknowledgments
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