Lm. Bird et al., RECURRENCE OF DIAPHRAGMATIC AGENESIS ASSOCIATED WITH MULTIPLE MIDLINEDEFECTS - EVIDENCE FOR AN AUTOSOMAL GENE REGULATING THE MIDLINE, American journal of medical genetics, 53(1), 1994, pp. 33-38
We report the familial occurrence of diaphragmatic agenesis in associa
tion with other midline anomalies in a brother and sister. Opitz and G
ilbert [Am J Med Genet 1982, 12:443-455] introduced the concept of the
midline as a developmental field, and there have been reports of pedi
grees compatible with the hypothesis of an X-linked gene regulating th
e development of the midline. This family suggests that an autosomal g
ene also contributes to the morphogenesis of midline structures. (C) 1
994 Wiley-Liss, Inc.