Genetic Conditions > congenital cataracts, facial dysmorphism, and neuropathy >

References

These sources were used to develop the Genetics Home Reference condition summary on congenital cataracts, facial dysmorphism, and neuropathy.

Angelicheva D, Turnev I, Dye D, Chandler D, Thomas PK, Kalaydjieva L. Congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome: a novel developmental disorder in Gypsies maps to 18qter. Eur J Hum Genet. 1999 Jul;7(5):560-6. PubMed citation
Gene Review: Congenital Cataracts, Facial Dysmorphism, and Neuropathy
Kalaydjieva L. Congenital cataracts-facial dysmorphism-neuropathy. Orphanet J Rare Dis. 2006 Aug 29;1:32. Review. PubMed citation
Mastroyianni SD, Garoufi A, Voudris K, Skardoutsou A, Stefanidis CJ, Katsarou E, Gooding R, Kalaydjieva L. Congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome: a rare cause of parainfectious rhabdomyolysis. Eur J Pediatr. 2007 Jul;166(7):747-9. Epub 2006 Dec 30. PubMed citation
Müllner-Eidenböck A, Moser E, Klebermass N, Amon M, Walter MC, Lochmüller H, Gooding R, Kalaydjieva L. Ocular features of the congenital cataracts facial dysmorphism neuropathy syndrome. Ophthalmology. 2004 Jul;111(7):1415-23. PubMed citation
Navarro C, Teijeira S. Neuromuscular disorders in the Gypsy ethnic group. A short review. Acta Myol. 2003 May;22(1):11-4. Review. PubMed citation
Shabo G, Scheffer H, Cruysberg JR, Lammens M, Pasman JW, Spruit M, Willemsen MA. Congenital cataract facial dysmorphism neuropathy syndrome: a clinically recognizable entity. Pediatr Neurol. 2005 Oct;33(4):277-9. PubMed citation
Tournev I, Kalaydjieva L, Youl B, Ishpekova B, Guergueltcheva V, Kamenov O, Katzarova M, Kamenov Z, Raicheva-Terzieva M, King RH, Romanski K, Petkov R, Schmarov A, Dimitrova G, Popova N, Uzunova M, Milanov S, Petrova J, Petkov Y, Kolarov G, Aneva L, Radeva O, Thomas PK. Congenital cataracts facial dysmorphism neuropathy syndrome, a novel complex genetic disease in Balkan Gypsies: clinical and electrophysiological observations. Ann Neurol. 1999 Jun;45(6):742-50. PubMed citation
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, Lochmüller H, Müllner-Eidenböck A, Merlini L, Neumann L, Bürger J, Walter M, Swoboda K, Thomas PK, von Moers A, Risch N, Kalaydjieva L. Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome. Nat Genet. 2003 Oct;35(2):185-9. Epub 2003 Sep 21. PubMed citation