New insights into genotype–phenotype correlation for GLI3 mutations-Reference-Cited by-同舟云学术

New insights into genotype–phenotype correlation for GLI3 mutations

Published:2014-04-16 Issue:1 Volume:23 Page:92-102
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Démurger Florence,Ichkou Amale,Mougou-Zerelli Soumaya,Le Merrer Martine,Goudefroye Géraldine,Delezoide Anne-Lise,Quélin Chloé,Manouvrier Sylvie,Baujat Geneviève,Fradin Mélanie,Pasquier Laurent,Megarbané André,Faivre Laurence,Baumann Clarisse,Nampoothiri Sheela,Roume Joëlle,Isidor Bertrand,Lacombe Didier,Delrue Marie-Ange,Mercier Sandra,Philip Nicole,Schaefer Elise,Holder Muriel,Krause Amanda,Laffargue Fanny,Sinico Martine,Amram Daniel,André Gwenaelle,Liquier Alain,Rossi Massimiliano,Amiel Jeanne,Giuliano Fabienne,Boute Odile,Dieux-Coeslier Anne,Jacquemont Marie-Line,Afenjar Alexandra,Van Maldergem Lionel,Lackmy-Port-Lis Marylin,Vincent- Delorme Catherine,Chauvet Marie-Liesse,Cormier-Daire Valérie,Devisme Louise,Geneviève David,Munnich Arnold,Viot Géraldine,Raoul Odile,Romana Serge,Gonzales Marie,Encha-Razavi Ferechte,Odent Sylvie,Vekemans Michel,Attie-Bitach Tania

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg201462.pdf

Reference34 articles.

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2. Kang S, Rosenberg M, Ko VD, Biesecker LG : Gene structure and allelic expression assay of the human GLI3 gene. Hum Genet 1997; 101: 154–157.

3. Hall JG, Pallister PD, Clarren SK et al: Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus and postaxial polydactyly–a new syndrome? Part I: clinical, causal, and pathogenetic considerations. Am J Med Genet 1980; 7: 47–74.

4. Clarren SK, Alvord EC Jr, Hall JG : Congenital hypothalamic hamartoblastoma, 68(3):hypopituitarism, imperforate anus, and postaxial polydactyly–a new syndrome? Part II: neuropathological considerations. Am J Med Genet 1980; 7: 75–83.

5. Biesecker L, Johnston J : Syndromic and non-syndromic GLI3 phenotypes. Clin Genet 2005; 68: 284–284.

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