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Blastogenesis dominant 1: A sequence with midline anomalies and heterotaxy

✍ Scribed by de Meeus, Anne; Sarda, Pierre; Tenconi, Romano; Ferrière, Marc; Bouvagnet, Patrice


Publisher
John Wiley and Sons
Year
1997
Tongue
English
Weight
138 KB
Volume
68
Category
Article
ISSN
0148-7299

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✦ Synopsis


Lateralization defect is a heterogeneous condition with different modes of transmission (autosomal recessive, dominant or X-linked).

Here, we report on 3 additional families that contribute to the description of phenotypic anomalies of the autosomal dominant type. Phenotypic anomalies include: lateralization defects, cardiac malformations, diaphragmatic hernia, urologic and neurologic anomalies. We suggest calling this sequence BGD1 for blastogenesis dominant 1 because the deleterious effect probably occurs during blastogenesis and involves not only lateralization but other defects as well. Am.