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.
Original language | English |
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Pages (from-to) | 313-315 |
Number of pages | 3 |
Journal | American Journal of Medical Genetics |
Volume | 36 |
Issue number | 3 |
DOIs | |
State | Published - 1 Jan 1990 |
Keywords
- cleft palate
- hydrops fetalis
- midline developmental schisis-morphogenesis
- omphalocele
ASJC Scopus subject areas
- Genetics(clinical)