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Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation.
Pasutto F, Sticht H, Hammersen G, Gillessen-Kaesbach G, Fitzpatrick DR, Nürnberg G, Brasch F, Schirmer-Zimmermann H, Tolmie JL, Chitayat D, Houge G, Fernández-Martínez L, Keating S, Mortier G, Hennekam RC, von der Wense A, Slavotinek A, Meinecke P, Bitoun P, Becker C, Nürnberg P, Reis A, Rauch A. Pasutto F, et al. Among authors: keating s. Am J Hum Genet. 2007 Mar;80(3):550-60. doi: 10.1086/512203. Epub 2007 Jan 29. Am J Hum Genet. 2007. PMID: 17273977 Free PMC article.
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.
Chitayat D, Sroka H, Keating S, Colby RS, Ryan G, Toi A, Blaser S, Viero S, Devisme L, Boute-Bénéjean O, Manouvrier-Hanu S, Mortier G, Loeys B, Rauch A, Bitoun P. Chitayat D, et al. Among authors: keating s. Am J Med Genet A. 2007 Jun 15;143A(12):1268-81. doi: 10.1002/ajmg.a.31788. Am J Med Genet A. 2007. PMID: 17506106
Chondrodysplasia punctata associated with maternal autoimmune diseases: expanding the spectrum from systemic lupus erythematosus (SLE) to mixed connective tissue disease (MCTD) and scleroderma report of eight cases.
Chitayat D, Keating S, Zand DJ, Costa T, Zackai EH, Silverman E, Tiller G, Unger S, Miller S, Kingdom J, Toi A, Curry CJ. Chitayat D, et al. Among authors: keating s. Am J Med Genet A. 2008 Dec 1;146A(23):3038-53. doi: 10.1002/ajmg.a.32554. Am J Med Genet A. 2008. PMID: 19006208
OEIS complex: prenatal ultrasound and autopsy findings.
Ben-Neriah Z, Withers S, Thomas M, Toi A, Chong K, Pai A, Velscher L, Vero S, Keating S, Taylor G, Chitayat D. Ben-Neriah Z, et al. Among authors: keating s. Ultrasound Obstet Gynecol. 2007 Feb;29(2):170-7. doi: 10.1002/uog.3874. Ultrasound Obstet Gynecol. 2007. PMID: 17221944 Free article.
Cornelia de Lange syndrome (CdLS): prenatal and autopsy findings.
Chong K, Keating S, Hurst S, Summers A, Berger H, Seaward G, Martin N, Friedberg T, Chitayat D. Chong K, et al. Among authors: keating s. Prenat Diagn. 2009 May;29(5):489-94. doi: 10.1002/pd.2228. Prenat Diagn. 2009. PMID: 19242925
736 results