Citations for
1CCFDN, CTDP1, ADNP2
Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome.
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.
Nat Genet 35(2):185-9. Epub 2003 Sep 21. 2003
2CCFDN
Linkage to 18qter differentiates two clinically overlapping syndromes: congenital cataracts-facial dysmorphism-neuropathy (CCFDN) syndrome and Marinesco-Sjogren syndrome.
Lagier-Tourenne C, Chaigne D, Gong J, Flori J, Mohr M, Ruh D, Christmann D, Flament J, Mandel JL, Koenig M, Dollfus H.
J Med Genet 39(11):838-43. No abstract available. 2002
3CCFDN
Genetic identity of Marinesco-Sjogren/myoglobinuria and CCFDN syndromes.
Merlini L, Gooding R, Lochmuller H, Muller-Felber W, Walter MC, Angelicheva D, Talim B, Hallmayer J, Kalaydjieva L.
Neurology 58(2):231-6. 2002
4CCFDN
Congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome: a novel developmental disorder in Gypsies maps to 18qter.
Angelicheva D, et al.
Eur J Hum Genet 7(5):560-6. 1999
5CCFDN
Peripheral nerve abnormalities in the congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome.
Tournev I, et al.
Acta Neuropathol (Berl) 98(2):165-70 1999
6CCFDN
Marinesco Sjogren syndrome with rhabdomyolysis. A new subtype of the disease.
Muller-Felber W, Zafiriou D, Scheck R, Patzke I, Toepfer M, Pongratz DE, Walther U.
Neuropediatrics 29(2):97-101. 1998