Bosma arhinia 小眼症综合征 : 临床报告和文献综述。
关键词: Bosma arhinia microphthalmia syndrome arhinia coloboma microphthalmia
Mesh : Abnormalities, Multiple / genetics physiopathology Adult Brain Diseases, Metabolic, Inborn / diagnostic imaging genetics physiopathology Choanal Atresia / diagnostic imaging genetics physiopathology Coloboma / diagnostic imaging genetics physiopathology Corneal Opacity / diagnostic imaging genetics physiopathology Facial Bones / abnormalities diagnostic imaging pathology Humans Intellectual Disability / diagnostic imaging genetics physiopathology Magnetic Resonance Imaging Male Microcephaly / diagnostic imaging genetics physiopathology Microphthalmos / diagnostic imaging genetics physiopathology Nose / abnormalities diagnostic imaging physiopathology Olfactory Bulb / diagnostic imaging pathology
来 源:
DOI:10.1002/ajmg.a.37572
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