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

Journal of Medical Genetics

Volumn 49, Issue 7, 2012, Pages 473-479

  Solomon, Benjamin D ^a   Bear, Kelly A ^a,b   Wyllie, Adrian ^a   Keaton, Amelia A ^a   Dubourg, Christele ^c,d   David, Veronique ^c,d   Mercier, Sandra ^d,e   Odent, Sylvie ^d,e   Hehr, Ute ^f   Paulussen, Aimee ^g   Clegg, Nancy J ^h   Delgado, Mauricio R ^h   Bale, Sherri J ⁱ   Lacbawan, Felicitas ^j   Ardinger, Holly H ^k   Aylsworth, Arthur S ^l   Bhengu, Ntombenhle Louisa ^m   Braddock, Stephen ⁿ   Brookhyser, Karen ^o   Burton, Barbara ^p   Gaspar, Harald ^q   Grix, Art ^o   Horovitz, Dafne ^r   Kanetzke, Erin ⁿ   Kayserili, Hulya ^s   Lev, Dorit ^t   Nikkel, Sarah M ^u   Norton, Mary ^v   Roberts, Richard ^w   Saal, Howard ^x   Schaefer, G B ^y   Schneider, Adele ^z   Smith, Erika K ^u   Sowry, Ellen ^aa   Spence, M Anne ^ab   Shalev, Stavit A ^ac,ad   Steiner, Carlos E ^ae   Thompson, Elizabeth M ^af   Winder, Thomas L ^ag   Balog, Joan Z ^a   Hadley, Donald W ^a   Zhou, Nan ^a   Pineda Alvarez, Daniel E ^a   Roessler, Erich ^a   Muenke, Maximilian ^a   more..

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b WALTER REED ARMY MEDICAL CENTER   (United States)

^c RENNES UNIVERSITY HOSPITAL   (France)

^d UNIVERSITÉ DE RENNES 1   (France)

^e SERVICE DE RHUMATOLOGIE   (France)

^f UNIVERSITY OF REGENSBURG   (Germany)

^g MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^h TEXAS SCOTTISH RITE HOSPITAL FOR CHILDREN   (United States)

ⁱ GENEDX   (United States)

^j LERNER RESEARCH INSTITUTE   (United States)

^k CHILDREN S MERCY HOSPITAL   (United States)

^l UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

^m Department of Human Genetics Corner Hospital and De Korte ^*  (South Africa)

ⁿ SAINT LOUIS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^o KAISER PERMANENTE   (United States)

^p NORTHWESTERN UNIVERSITY   (United States)

^q UNIVERSITY OF HEIDELBERG   (Germany)

^r INSTITUTO OSWALDO CRUZ   (Brazil)

^s ISTANBUL UNIVERSITY   (Turkey)

^t WOLFSON MEDICAL CENTER   (Israel)

^u CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^v STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^w Genetics and Prenatal Diagnostic Center   (United States)

^x CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

^y UNIVERSITY OF ARKANSAS FOR MEDICAL SCIENCES   (United States)

^z EINSTEIN MEDICAL CENTER   (United States)

^aa CHILDREN S HOSPITAL OF PITTSBURGH   (United States)

^ab UNIVERSITY OF CALIFORNIA   (United States)

^ac HAEMEK MEDICAL CENTER   (Israel)

^ad TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

^ae UNIVERSITY OF CAMPINAS   (Brazil)

^af WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^ag Prevention Genetics   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN; SONIC HEDGEHOG PROTEIN; TRANSCRIPTION FACTOR SIX3; UNCLASSIFIED DRUG; ZIC2 PROTEIN;

AMINO TERMINAL SEQUENCE; ARTICLE; CARBOXY TERMINAL SEQUENCE; DISEASE SEVERITY; FEMALE; GENE LOCATION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC CODE; GENETIC PREDISPOSITION; GENETIC VARIABILITY; GENOTYPE; HOLOPROSENCEPHALY; HUMAN; MAJOR CLINICAL STUDY; MALE; PHENOTYPE; PRIORITY JOURNAL;

FEMALE; GENETIC ASSOCIATION STUDIES; GENOTYPE; HEDGEHOG PROTEINS; HOLOPROSENCEPHALY; HUMANS; MALE; MUTATION; PROSENCEPHALON;

ERINACEIDAE;

EID: 84864303899     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2012-101008     Document Type: Article

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