FIGURE
Fig. 2
- ID
- ZDB-FIG-231212-70
- Publication
- Liu et al., 2023 - Identification of an α-l-iduronidase (IDUA) M1T mutation in a Chinese family with autosomal recessive mucopolysaccharidosis I
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Fig. 2
X-ray of hands, chest, and abdomen showed dysostosis multiplex. (A) X-ray of both hands showed widened phalanges and metacarpals with proximal pointing. (B) X-ray of chest showed the gross cardiomegaly with widened anterior end of ribs. (C, D) X-ray of abdomen showed deformation of external clavicle, bone defect of anterior edge of L1 vertebral body, multiple vertebral body morphological disorders, and some rib morphological disorders (e.g., ribbon-like changes). |
Expression Data
Expression Detail
Antibody Labeling
Phenotype Data
Phenotype Detail
Acknowledgments
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