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A new phenotype of EVEN-PLUS syndrome in a Chinese family and literature review.
Liu M, Li H, Ren S, Ding C. Liu M, et al. Mol Genet Genomic Med. 2024 Jan;12(1):e2335. doi: 10.1002/mgg3.2335. Mol Genet Genomic Med. 2024. PMID: 38284453 Free PMC article. Review.
BACKGROUND: Epiphyseal, Vertebral, Ear, and Nose (EVEN)-PLUS syndrome is a rare condition characterized by the involvement of the Epiphyses, Vertebrae, Ears, and Nose, plus other associated findings, due to pathogenic variants in the HSPA9 gene. ...Other spec …
BACKGROUND: Epiphyseal, Vertebral, Ear, and Nose (EVEN)-PLUS syndrome is a rare condition characterized by the involvement of …
Skeletal abnormalities in the Apert syndrome.
Cohen MM Jr, Kreiborg S. Cohen MM Jr, et al. Am J Med Genet. 1993 Oct 1;47(5):624-32. doi: 10.1002/ajmg.1320470509. Am J Med Genet. 1993. PMID: 8266987 Review.
Analysis includes alterations in the shoulders, humeri, elbows, hips, knees, rib cage, and spine (except the cervical spine). Some patients had subacromial dimples and elbow dimples during infancy. ...Radiographic examination strongly suggests that the Apert syndrom …
Analysis includes alterations in the shoulders, humeri, elbows, hips, knees, rib cage, and spine (except the cervical spine). …