| 1 | DEL14Q22, BAPA
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| Deletion at 14q22-23 indicates a contiguous gene syndrome comprising anophthalmia, pituitary hypoplasia, and ear anomalies.
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| Nolen LD, Amor D, Haywood A, St Heaps L, Willcock C, Mihelec M, Tam P, Billson F, Grigg J, Peters G, Jamieson RV.
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| Am J Med Genet A 140(16):1711-8. 2006
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| 2 | SIX6, BAPA, DEL14Q22
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| Analysis of the developmental SIX6 homeobox gene in patients with anophthalmia/microphthalmia.
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| Gallardo ME, Rodriguez De Cordoba S, Schneider AS, Dwyer MA, Ayuso C, Bovolenta P.
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| Am J Med Genet 129A(1):92-4. No abstract available. 2004
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| 3 | BAPA, SIX6
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| Exclusion of SIX6 hemizygosity in a child with anophthalmia, panhypopituitarism and renal failure.
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| Rauchman M, Hoffman WH, Hanna JD, Kulharya AS, Figueroa RE, Yang J, Tuck-Miller CM.
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| Am J Med Genet 104 : 31-36. 2001
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| 4 | BAPA, SIX2, SIX4, SIX6, DEL14Q22
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| Genomic cloning and characterization of the human homeobox gene SIX6 reveals a cluster of SIX genes in chromosome 14 and associates SIX6 hemizygosity with bilateral anophthalmia and pituitary anomalies.
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| Gallardo ME, Lopez-Rios J, Fernaud-Espinosa I, Granadino B, Sanz R, Ramos C, Ayuso C, Seller MJ, Brunner HG, Bovolenta P, Rodriguez de Cordoba S.
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| Genomics 61(1):82-91. 1999
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