| 1 | PAMD, STRA6
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| Mutation analysis of the STRA6 gene in isolated and non-isolated anophthalmia/microphthalmia.
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| Chassaing N, Ragge N, Kariminejad A, Buffet A, Ghaderi-Sohi S, Martinovic J, Calvas P.
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| Clin Genet 83(3):244-50. doi: 10.1111/j.1399-0004.2012.01904.x. Epub 2012 Jul 4.
2013
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| 2 | PAMD, STRA6
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| First implication of STRA6 mutations in isolated anophthalmia, microphthalmia, and coloboma: a new dimension to the STRA6 phenotype.
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| Casey J, Kawaguchi R, Morrissey M, Sun H, McGettigan P, Nielsen JE, Conroy J, Regan R, Kenny E, Cormican P, Morris DW, Tormey P, Chróinín MN, Kennedy BN, Lynch S, Green A, Ennis S.
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| Hum Mutat 32(12):1417-26. doi: 10.1002/humu.21590. Epub 2011 Sep 29. 2011
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| 3 | PAMD, STRA6
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| Two novel STRA6 mutations in a patient with anophthalmia and diaphragmatic eventration.
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| West B, Bove KE, Slavotinek AM.
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| Am J Med Genet A 149A(3):539-42. No abstract available. 2009
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| 4 | PAMD, STRA6
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| Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect (PDAC) syndrome due to STRA6 mutations--what are the minimal criteria?
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| Segel R, Levy-Lahad E, Pasutto F, Picard E, Rauch A, Alterescu G, Schimmel MS.
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| Am J Med Genet A 149A(11):2457-63.PMID: 19839040 2009
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| 5 | PAMD, STRA6
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| Phenotypic spectrum of STRA6 mutations: from Matthew-Wood syndrome to non-lethal anophthalmia.
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| Chassaing N, Golzio C, Odent S, Lequeux L, Vigouroux A, Martinovic-Bouriel J, Tiziano FD, Masini L, Piro F, Maragliano G, Delezoide AL, Attié-Bitach T, Manouvrier-Hanu S, Etchevers HC, Calvas P.
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| Hum Mutat 30(5):E673-81.PMID: 19309693 2009
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| 6 | CFNS, DLL3, EFNB1, FOAR, FRNS, GPC3, LRP2, PAMD, SCDO1, SGBS, STRA6, UNK
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| Genetic aspects of human congenital diaphragmatic hernia.
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| Pober BR.
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| Clin Genet 74(1):1-15. Epub 2008 May 28. 2008
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| 7 | PAMD, STRA6
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| Matthew-Wood Syndrome Is Caused by Truncating Mutations in the Retinol-Binding Protein Receptor Gene STRA6.
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| Golzio C, Martinovic-Bouriel J, Thomas S, Mougou-Zrelli S, Grattagliano-Bessieres B, Bonniere M, Delahaye S, Munnich A, Encha-Razavi F, Lyonnet S, Vekemans M, Attie-Bitach T, Etchevers HC.
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| Am J Hum Genet 80(6):1179-87. Epub 2007 Apr 11. 2007
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| 8 | PAMD, STRA6
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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.
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| Pasutto F, Sticht H, Hammersen G, Gillessen-Kaesbach G, Fitzpatrick DR, Nurnberg G, Brasch F, Schirmer-Zimmermann H, Tolmie JL, Chitayat D, Houge G, Fernandez-Martinez L, Keating S, Mortier G, Hennekam RC, von der Wense A, Slavotinek A, Meinecke P, Bitoun P, Becker C, Nurnberg P, Reis A, Rauch A.
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| Am J Hum Genet 80(3):550-60. Epub 2007 Jan 29. 2007
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| 9 | PAMD
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| Combination of diaphragmatic eventration and microphthalmia/anophthalmia is probably nonrandom.
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| Steiner RD, St J Dignan P, Hopkin RJ, Kozielski R, Bove KE.
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| Am J Med Genet 108(1):45-50. 2002
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| 10 | PAMD, STRA6
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| Developmental expression pattern of Stra6, a retinoic acid-responsive gene encoding a new type of membrane protein.
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| Bouillet P, Sapin V, Chazaud C, Messaddeq N, Decimo D, Dolle P, Chambon P.
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| Mech Dev 63(2):173-86. 1997
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