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Fig. 1 | Human Genomics

Fig. 1

From: EFTUD2 gene deficiency disrupts osteoblast maturation and inhibits chondrocyte differentiation via activation of the p53 signaling pathway

Fig. 1

Clinical presentation of the proband. a Microcephaly, abnormal external ear, and mandibular hypoplasia features of the patient at 57 months of age. b Malformed structures of the external and middle ear on the left head and temporal bones via CT scan at 37 months of age; soft tissue could be seen in the left tympanic cavity. R, right; L, left

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Human Genomics

ISSN: 1479-7364