Carmi R, Meizner I, Katz M
Genetics Unit, Soroka University Hospital, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.
Am J Med Genet. 1990 Jul;36(3):313-5. doi: 10.1002/ajmg.1320360314.
We report on familial occurrence of congenital diaphragmatic defect and associated midline anomalies, namely cleft palate and omphalocele in brothers. This family further supports the existence of an X-linked gene involved in the organization of the embryonal midline. This particular mutant gene might be active in the schisis-morphogenesis phenomena occurring at the midline.
我们报告了兄弟中先天性膈缺损及相关中线异常（即腭裂和脐膨出）的家族性发生情况。这个家族进一步支持了参与胚胎中线组织形成的X连锁基因的存在。这个特定的突变基因可能在中线处发生的裂隙形态发生现象中起作用。
