Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog

Date
2012
Author
Clegg, Nancy J.
Delgado, Mauricio R.
Bale, Sherri J.
Lacbawan, Felicitas
Ardinger, Holly H.
Aylsworth, Arthur S.
Bhengu, Ntombenhle Louisa
Braddock, Stephen
Brookhyser, Karen
Burton, Barbara
Gaspar, Harald
Grix, Art
Horovitz, Dafne
Kanetzke, Erin
Lev, Dorit
Norton, Mary
Roberts, Richard
Saal, Howard
Schaefer, G. B.
Schneider, Adele
Smith, Erika K.
Sowry, Ellen
Spence, M. Anne
Shalev, Stavit A.
Steiner, Carlos E.
Thompson, Elizabeth M.
Winder, Thomas L.
Balog, Joan Z.
Hadley, Donald W.
Zhou, Nan
Pineda-Alvarez, Daniel E.
Roessler, Erich
Muenke, Maximilian
Kayserili, Hulya
Nikkel, Sarah M.
Solomon, Benjamin D.
Bear, Kelly A.
Wyllie, Adrian
Mercier, Sandra
Keaton, Amelia A.
Dubourg, Christele
David, Veronique
Odent, Sylvie
Hehr, Ute
Paulussen, Aimee
Metadata
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Abstract
Background Holoprosencephaly (HPE), the most common malformation of the human forebrain, may result from mutations in over 12 genes. Sonic Hedgehog (SHH) was the first such gene discovered; mutations in SHH remain the most common cause of nonchromosomal HPE. The severity spectrum is wide, ranging from incompatibility with extrauterine life to isolated midline facial differences.
URI
http://hdl.handle.net/20.500.12627/44838
https://doi.org/10.1136/jmedgenet-2012-101008
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