Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations-Reference-Cited by-同舟云学术

Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations

Published:2012-02-22 Issue:7 Volume:20 Page:806-809
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Field Michael,Scheffer Ingrid E,Gill Deepak,Wilson Meredith,Christie Louise,Shaw Marie,Gardner Alison,Glubb Georgie,Hobson Lynne,Corbett Mark,Friend Kathryn,Willis-Owen Saffron,Gecz Jozef

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg20129.pdf

Reference13 articles.

1. Ferrante MI, Giorgio G, Feather SA et al: Identification of the gene for oral-facial-digital type I syndrome. Am J Hum Genet 2001; 68: 569–576.

2. Gleeson JG, Keeler LC, Parisi MA et al: Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes. Am J Med Genet A 2004; 125A: 125–134.

3. Coene KL, Roepman R, Doherty D et al: OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin. Am J Hum Genet 2009; 85: 465–481.

4. Valente EM, Logan CV, Mougou-Zerelli S et al: Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. Nat Genet 2010; 42: 619–625.

5. Budny B, Chen W, Omran H et al: A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome. Hum Genet 2006; 120: 171–178.

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