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Autor:
Matthew A. Saxonhouse, Graham Cosper, Irina Geiculescu, Ronald Sutsko, Laurie A. Demmer, James E. Jones
Publikováno v:
Journal of Pediatric Genetics.
Matthew-Wood syndrome represents a rare genetic disorder characterized by diaphragmatic defects, pulmonary hypoplasia, micro- or anophthalmia, and cardiac defects. Most cases are lethal with very few infants living beyond a few years of life. Sibling