Article
Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog.
Journal of medical genetics - 1 Jul 2012
Solomon Benjamin D, Bear Kelly A, Wyllie Adrian, Keaton Amelia A, Dubourg Christele, David Veronique, Mercier Sandra, Odent Sylvie, Hehr Ute, Paulussen Aimee, 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, Kayserili Hulya, Lev Dorit, Nikkel Sarah M, 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
Abstract excerpt
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 non-chromosomal HPE. The severity spectrum is wide, rangi...
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