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Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect (PDAC) syndrome due to STRA6 mutations - What are the minimal criteria
American Journal of Medical Genetics, 10/19/09
Segel R et al. – STRA6 analysis should be considered in all patients with clinical anophthalmia. Genetic counseling should be cautious with respect to long–term developmental outcomes
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