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A novel mutation in MID1 in a patient with X-linked Opitz G/BBB syndrome

✍ Scribed by Ji, Xing; Xing, Ya; Xu, Yan; Liu, Yu; Chen, Yingwei; Tao, Jiong; Xiao, Bing


Book ID
122674799
Publisher
Elsevier Science
Year
2014
Tongue
English
Weight
463 KB
Volume
537
Category
Article
ISSN
0378-1119

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Communicated by Nancy B. Spinner Opitz G/BBB Syndrome (OS) is a multiple congenital anomaly disorder characterized by defects along the body midline. The disease is characterized by variable expressivity of signs that include hypertelorism, cleft lip and/or palate, laryngo-tracheo-esophageal abnorma