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  • Title: Familial congenital diaphragmatic defect and associated midline anomalies: further evidence for an X-linked midline gene?
    Author: Carmi R, Meizner I, Katz M.
    Journal: Am J Med Genet; 1990 Jul; 36(3):313-5. PubMed ID: 2363430.
    Abstract:
    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.
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