Show 100 5 10 15 20 50 100 250 Sort by year (new to old) Actions Download search results Subscribe to news feed Your filters: cql: author="KEATING, S" or (type any "bookEditor issueEditor" and editor="KEATING, S") Add to list Journal Article A1 The PDAC syndrome (Pulmonary hypoplasia/agenesis, diaphragmatic hernia/eventration, anophthalmia/microphthalmia, and cardiac defect) (Spear syndrome, Matthew-Wood syndrome): Report of eight cases including a living child and further evidence for autosomal recessive inheritance D CHITAYAT, H SROKA, S KEATING, RS COLBY, G RYAN, A TOI, S BLASER, S VIERO, L DEVISME, O BOUTE-BENEJEAN, et al. (2007) AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 143A(12). p.1268-1281 Add to list Journal Article A1 Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation F PASUTTO, H STICHT, G HAMMERSEN, G GILLESSEN-KAESBACH, DR FITZPATRICK, G NURNBERG, F BRASCH, H SCHIRMER-ZIMMERMANN, JL TOLMIE, D CHITAYAT, et al. (2007) AMERICAN JOURNAL OF HUMAN GENETICS. 80(3). p.550-560