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Exon 2 duplication of the MID1 gene in a patient with a mild phenotype of Opitz G/BBB syndrome

✍ Scribed by Hüning, Irina; Kutsche, Kerstin; Rajaei, Saideh; Erlandsson, Anna; Lovmar, Lovisa; Rundberg, Julia; Stefanova, Margarita

Book ID: 123551119
Publisher: Elsevier Science
Year: 2013
Tongue: English
Weight: 512 KB
Volume: 56
Category: Article
ISSN: 1769-7212
DOI: 10.1016/j.ejmg.2013.01.004

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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