Mutations in multidomain protein MEGF8 identify a carpenter syndrome subtype associated with defective lateralization

American Journal of Human Genetics

Volumn 91, Issue 5, 2012, Pages 897-905

  Twigg, Stephen R F ^a   Lloyd, Deborah ^a   Jenkins, Dagan ^b   Elçioglu, Nursel E ^c   Cooper, Christopher D O ^d   Al Sannaa, Nouriya ^e   Annagür, Ali ^f   Gillessen Kaesbach, Gabriele ^g   Hüning, Irina ^g   Knight, Samantha J L ^h   Goodship, Judith A ⁱ   Keavney, Bernard D ⁱ   Beales, Philip L ^b   Gileadi, Opher ^d   McGowan, Simon J ^a   Wilkie, Andrew O M ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c MARMARA UNIVERSITY   (Turkey)

^d UNIVERSITY OF OXFORD   (United Kingdom)

^e DHAHRAN HEALTH CENTER   (Saudi Arabia)

^f SELCUK UNIVERSITY   (Turkey)

^g UNIVERSITY OF LÜBECK   (Germany)

^h UNIVERSITY OF OXFORD   (United Kingdom)

ⁱ NEWCASTLE UNIVERSITY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

EPIDERMAL GROWTH FACTOR; MULTIPLE EPIDERMAL GROWTH FACTOR LIKE DOMAIN 8; UNCLASSIFIED DRUG;

ACROCEPHALOPOLYSYNDACTYLY TYPE 2; ALLELE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHILD; CLINICAL ARTICLE; DEXTROCARDIA; FACE DYSMORPHIA; FEMALE; GASTRULATION; GREAT VESSELS TRANSPOSITION; HUMAN; MALE; MISSENSE MUTATION; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SITUS INVERSUS; ZEBRA FISH;

ACROCEPHALOSYNDACTYLIA; ALLELES; ANIMALS; ANIMALS, GENETICALLY MODIFIED; CHILD; CHILD, PRESCHOOL; FACIES; FEMALE; GENETIC ASSOCIATION STUDIES; GENOTYPE; HUMANS; MALE; MEMBRANE PROTEINS; MUTATION; ZEBRAFISH;

DANIO RERIO; ERINACEIDAE;

EID: 84868457351     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2012.08.027     Document Type: Article

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