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References

These sources were used to develop the Genetics Home Reference gene summary on the CTDP1 gene.

Entrez Gene
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
Majello B, Napolitano G. Control of RNA polymerase II activity by dedicated CTD kinases and phosphatases. Front Biosci. 2001 Oct 1;6:D1358-68. Review. PubMed citation
OMIM: C-TERMINAL DOMAIN OF RNA POLYMERASE II SUBUNIT A, PHOSPHATASE OF, SUBUNIT 1
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
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

Reviewed: April 2010

Published: June 17, 2013