title: Expanding the phenotypic expression of Sonic Hedgehog mutations beyond holoprosencephaly.
authors.affiliation: From the Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
authors.forename: Paul
authors.initials: P
authors.lastname: Kruszka
authors.forename: Rachel A
authors.initials: RA
authors.lastname: Hart
authors.forename: Donald W
authors.initials: DW
authors.lastname: Hadley
authors.forename: Maximilian
authors.initials: M
authors.lastname: Muenke
authors.forename: Mutaz B
authors.initials: MB
authors.lastname: Habal
mesh_terms: D000225:Adenine; D003545:Cysteine / Q000235:genetics; D005260:Female; D015870:Gene Expression; D006147:Guanine; D053823:Hedgehog Proteins / Q000235:genetics*; D016142:Holoprosencephaly / Q000145:classification / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D019683:Penetrance; D010641:Phenotype; D014443:Tyrosine / Q000235:genetics
chemical_list: D053823:Hedgehog Proteins; C509239:SHH protein, human; D014443:Tyrosine; D006147:Guanine; D000225:Adenine; D003545:Cysteine