Pathogenic mutations inGLI2cause a specific phenotype that is distinct from holoprosencephaly-Reference-Cited by-同舟云学术

Pathogenic mutations inGLI2cause a specific phenotype that is distinct from holoprosencephaly

Published:2014-04-17 Issue:6 Volume:51 Page:413-418
ISSN:0022-2593
Container-title:Journal of Medical Genetics
language:en
Short-container-title:J Med Genet

Author:

Bear Kelly A,Solomon Benjamin D,Antonini Sonir,Arnhold Ivo J P,França Marcela M,Gerkes Erica H,Grange Dorothy K,Hadley Donald W,Jääskeläinen Jarmo,Paulo Sabrina S,Rump Patrick,Stratakis Constantine A,Thompson Elizabeth M,Willis Mary,Winder Thomas L,Jorge Alexander A L,Roessler Erich,Muenke Maximilian

Publisher

BMJ

Subject

Genetics (clinical),Genetics

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3. Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features;Roessler;Proc Natl Acad Sci USA,2003

4. Hedgehog-Gli signalling and the growth of the brain;Ruiz i Altaba;Nat Rev Neurosci,2002

5. The sonic hedgehog-patched-gli pathway in human development and disease;Villavicencio;Am J Hum Genet,2000

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