RAB23 mutations in carpenter syndrome imply an unexpected role for Hedgehog signaling in cranial-suture development and obesity

American Journal of Human Genetics

Volumn 80, Issue 6, 2007, Pages 1162-1170

  Jenkins, Dagan ^a,j   Seelow, Dominik ^c   Jehee, Fernanda S ^d   Perlyn, Chad A ^g   Alonso, Luís G ^e   Bueno, Daniela F ^f   Donnai, Dian ⁱ   Josifiova, Dragana ^a,j   Mathijssen, Irene M J ^k   Morton, Jenny E V ^l   Ørstavik, Karen Helene ^m   Sweeney, Elizabeth ⁿ   Wall, Steven A ^b   Marsh, Jeffrey L ^h   Nürnberg, Peter ^c   Passos Bueno, Maria Rita ^d   Wilkie, Andrew O M ^a,b  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b OXFORD UNIVERSITY HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^c UNIVERSITY OF COLOGNE   (Germany)

^d UNIVERSITY OF SÃO PAULO   (Brazil)

^e FEDERAL UNIVERSITY OF SÃO PAULO   (Brazil)

^f UNIVERSITY OF CAMPINAS   (Brazil)

^g WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^h ST JOHN S MERCY MEDICAL CENTER   (United States)

ⁱ UNIVERSITY OF MANCHESTER   (United Kingdom)

^j GUY S HOSPITAL   (United Kingdom)

^k ERASMUS MEDICAL CENTER   (Netherlands)

^l BIRMINGHAM WOMEN S HOSPITAL   (United Kingdom)

^m UNIVERSITY OF OSLO   (Norway)

ⁿ LIVERPOOL WOMEN S HOSPITAL   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

RAB PROTEIN; RAB23 PROTEIN; SONIC HEDGEHOG PROTEIN; UNCLASSIFIED DRUG; RAB23 PROTEIN, HUMAN;

ACROCEPHALOSYNDACTYLY; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BIOGENESIS; CHROMOSOME 6P; CLINICAL FEATURE; CONGENITAL HEART MALFORMATION; CRANIAL SUTURE; CRANIOFACIAL SYNOSTOSIS; FOUNDER EFFECT; GENE MAPPING; GENE MUTATION; GENETIC LINKAGE; HAPLOTYPE; HOMOZYGOSITY; HUMAN; LETHALITY; MISSENSE MUTATION; NEURAL TUBE DEFECT; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; OBESITY; POLAND SYNDROME; PRIORITY JOURNAL; PROTEIN FAMILY; SIGNAL TRANSDUCTION; SPECIES DIFFERENCE; CHROMOSOME 6; CHROMOSOME MAP; GENETICS; GROWTH, DEVELOPMENT AND AGING; MUTATION; PHYSIOLOGY; RECESSIVE GENE; SYNDROME;

ERINACEIDAE; MUS;

ACROCEPHALOSYNDACTYLIA; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 6; CRANIAL SUTURES; GENES, RECESSIVE; HEDGEHOG PROTEINS; HUMANS; LINKAGE (GENETICS); MUTATION; OBESITY; RAB GTP-BINDING PROTEINS; SIGNAL TRANSDUCTION; SYNDROME;

EID: 34250009169     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/518047     Document Type: Article

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