S. Debrus et al., AUTOSOMAL RECESSIVE LATERALIZATION AND MIDLINE DEFECTS - BLASTOGENESIS RECESSIVE-1, American journal of medical genetics, 68(4), 1997, pp. 401-404
In this report, we present 2 sibships in which midline and lateralizat
ion anomalies are demonstrated. Because midline and lateralization pro
cesses are early embryological events, we suggest calling this sequenc
e Blastogenesis Recessive 1 (BGR1). Since connexin 43 gene mutations w
ere demonstrated in some polyasplenia patients and according to connex
in 43 temporospatial tissue expression, we hypothesize that this gene
could bear mutations responsible for the anomalies reported in these t
wo sibships. (C) 1997 Wiley-Liss, Inc.