| 1 | ANK1, DEL8PP
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| A de novo interstitial deletion of 8p11.2 including ANK1 identified in a patient with spherocytosis, psychomotor developmental delay, and distinctive facial features.
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| Miya K, Shimojima K, Sugawara M, Shimada S, Tsuri H, Harai-Tanaka T, Nakaoka S, Kanegane H, Miyawaki T, Yamamoto T.
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| Gene 506(1):146-9. doi: 10.1016/j.gene.2012.06.086. Epub 2012 Jul 4. Review.
2012
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| 2 | DEL8PP
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| A novel 8 Mb interstitial deletion of chromosome 8p12-p21.2.
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| Klopocki E, Fiebig B, Robinson P, Tonnies H, Erdogan F, Ropers HH, Mundlos S, Ullmann R.
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| Am J Med Genet A 140(8):873-7. 2006
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| 3 | ANK1, DEL8PP, FGFR1, KAL2, SPH1
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| New case of contiguous gene syndrome at chromosome 8p11.2p12.
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| Cau M, Congiu R, Origa R, Galanello R, Melis MA, Nucaro AL.
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| Am J Med Genet A 136A(2):221-222. 2005
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| 4 | ANK1, DEL8PP, FGFR1, KAL2, SPH1
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| Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome.
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| Dode C, Levilliers J, Dupont JM, De Paepe A, Le Du N, Soussi-Yanicostas N, Coimbra RS, Delmaghani S, Compain-Nouaille S, Baverel F, Pecheux C, Le Tessier D, Cruaud C, Delpech M, Speleman F, Vermeulen S, Amalfitano A, Bachelot Y, Bouchard P, Cabrol S, Carel JC, Delemarre-van de Waal H, Goulet-Salmon B, Kottler ML, Richard O, Sanchez-Franco F, Saura R, Young J, Petit C, Hardelin JP.
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| Nat Genet 33(4):463-5. Epub 2003 Mar 10. 2003
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| 5 | DEL8P, DEL8P23, DEL8PP
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| Interstitial deletion of 8p: report of two patients and review of the literature.
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| Tsukahara M, Murano I, Aoki Y, Kajii T, Furukawa S.
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| Clin Genet 48(1):41-5. Review. 1995
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