The mutational spectrum of the Sonic Hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly

Human Molecular Genetics

Volumn 8, Issue 13, 1999, Pages 2479-2488

  Nanni, Luisa ^a   Ming, Jeffrey E ^a   Bocian, Maureen ^c   Steinhaus, Kathryn ^c   Bianchi, Diana W ^d   De Die Smulders, Christine ^m   Giannotti, Aldo ^e   Imaizumi, Kiyoshi ^f   Jones, Kenneth L ^g   Del Campo, Miguel ^g   Martin, Rick A ^h   Meinecke, Peter ⁱ   Pierpont, Mary Ella M ^j   Robin, Nathaniel H ^k   Young, Ian D ^l   Roessler, Erich ^b   Muenke, Maximilian ^a,b  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d TUFTS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^e BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^f KANAGAWA CHILDREN'S MEDICAL CENTER   (Japan)

^g UNIVERSITY OF CALIFORNIA   (United States)

^h ST CHRISTOPHER'S HOSPITAL FOR CHILDREN   (United States)

ⁱ Altonaer Kinderkrankenhaus   (Germany)

^j UNIV OF MINNESOTA HOSP AND CLINIC   (United States)

^k CASE WESTERN RESERVE UNIVERSITY   (United States)

^l NOTTINGHAM CITY HOSPITAL   (United Kingdom)

^m NONE

more..

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BRAIN DEVELOPMENT; CLINICAL FEATURE; FAMILIAL DISEASE; FOREBRAIN; GENE MUTATION; HAPLOIDY; HOLOPROSENCEPHALY; HUMAN; MAJOR CLINICAL STUDY; MISSENSE MUTATION; NONSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL;

ERINACEIDAE;

EID: 0032732443     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/8.13.2479     Document Type: Article

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