Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog
Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog
About this item
Full title
Author / Creator
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 and Muenke, Maximilian
Publisher
London: BMJ Publishing Group Ltd
Journal title
Language
English
Formats
Publication information
Publisher
London: BMJ Publishing Group Ltd
Subjects
More information
Scope and Contents
Contents
BackgroundHoloprosencephaly (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, ranging from incompatibility with extrauterine life to isola...
Alternative Titles
Full title
Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog
Authors, Artists and Contributors
Author / Creator
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
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_hal_primary_oai_HAL_inserm_00718148v1
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_hal_primary_oai_HAL_inserm_00718148v1
Other Identifiers
ISSN
0022-2593,1468-6244
E-ISSN
1468-6244
DOI
10.1136/jmedgenet-2012-101008
