| 1 | CCFDN, CTDP1
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| Congenital cataract, facial dysmorphism and demyelinating neuropathy (CCFDN) in 10 Czech Gypsy children--frequent and underestimated cause of disability among Czech Gypsies
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| Lassuthova P, Siková D, Haberlová J, Sakmaryová I, Filou A, Seeman P.
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| Orphanet J Rare Dis. Apr 1;9:46. doi: 10.1186/1750-1172-9-46. 2014
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| 2 | CCFDN, CTDP1
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| Congenital cataracts, facial dysmorphism, and neuropathy syndrome.
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| Tzifi F, Pons R, Athanassaki C, Poulou M, Kanavakis E.
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| Pediatr Neurol. Sep;45(3):206-8. doi: 10.1016/j.pediatrneurol.2011.05.008. 2011
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| 3 | CCFDN, CTDP1, ADNP2
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| Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome.
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| Varon R, Gooding R, Steglich C, Marns L, Tang H, Angelicheva D, Yong KK, Ambrugger P, Reinhold A, Morar B, Baas F, Kwa M, Tournev I, Guerguelcheva V, Kremensky I, Lochmuller H, Mullner-Eidenbock A, Merlini L, Neumann L, Burger J, Walter M, Swoboda K, Thomas PK, von Moers A, Risch N, Kalaydjieva L.
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| Nat Genet 35(2):185-9. Epub 2003 Sep 21. 2003
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| 4 | CCFDN
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| Linkage to 18qter differentiates two clinically overlapping syndromes: congenital cataracts-facial dysmorphism-neuropathy (CCFDN) syndrome and Marinesco-Sjogren syndrome.
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| Lagier-Tourenne C, Chaigne D, Gong J, Flori J, Mohr M, Ruh D, Christmann D, Flament J, Mandel JL, Koenig M, Dollfus H.
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| J Med Genet 39(11):838-43. No abstract available. 2002
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| 5 | CCFDN
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| Genetic identity of Marinesco-Sjogren/myoglobinuria and CCFDN syndromes.
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| Merlini L, Gooding R, Lochmuller H, Muller-Felber W, Walter MC, Angelicheva D, Talim B, Hallmayer J, Kalaydjieva L.
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| Neurology 58(2):231-6. 2002
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| 6 | CCFDN
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| Congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome: a novel developmental disorder in Gypsies maps to 18qter.
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| Angelicheva D, et al.
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| Eur J Hum Genet 7(5):560-6. 1999
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| 7 | CCFDN
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| Peripheral nerve abnormalities in the congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome.
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| Tournev I, et al.
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| Acta Neuropathol (Berl) 98(2):165-70 1999
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| 8 | CCFDN
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| Marinesco Sjogren syndrome with rhabdomyolysis. A new subtype of the disease.
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| Muller-Felber W, Zafiriou D, Scheck R, Patzke I, Toepfer M, Pongratz DE, Walther U.
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| Neuropediatrics 29(2):97-101. 1998
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