A large duplication involving the IHH locus mimics acrocallosal syndrome

European Journal of Human Genetics

Volumn 20, Issue 6, 2012, Pages 639-644

  Yuksel Apak, Memnune ^a   Bögershausen, Nina ^b,c   Pawlik, Barbara ^b,c   Li, Yun ^b,c   Apak, Selcuk ^d   Uyguner, Oya ^a   Milz, Esther ^b,c   Nürnberg, Gudrun ^b,e   Karaman, Birsen ^a   Gülgören, Ayan ^d   Grzeschik, Karl Heinz ^f   Nürnberg, Peter ^b,e   Kayserili, Hülya ^a   Wollnik, Bernd ^b,c  

^a ISTANBUL UNIVERSITY   (Turkey)

^b UNIVERSITY OF COLOGNE   (Germany)

^c UNIVERSITY HOSPITAL OF COLOGNE   (Germany)

^d Husrev Gerede Sok ^*  (Turkey)

^e UNIVERSITY OF COLOGNE   (Germany)

^f PHILIPPS UNIVERSITY MARBURG   (Germany)

Author keywords

acrocallosal syndrome; duplication; Indian hedgehog; polydactyly

Indexed keywords

GENOMIC DNA; SONIC HEDGEHOG PROTEIN;

ACROCALLOSAL SYNDROME; ARTICLE; BONE DEVELOPMENT; CASE REPORT; CHILD; CHROMOSOME 2Q; COPY NUMBER VARIATION; CORPUS CALLOSUM AGENESIS; CRANIOFACIAL MALFORMATION; DIFFERENTIAL DIAGNOSIS; EAR MALFORMATION; EMBRYO DEVELOPMENT; GENE LOCUS; GENE MUTATION; HUMAN; HYPERTELORISM; LIMB DEVELOPMENT; MACROCEPHALY; MALE; MISSENSE MUTATION; MULTIPLE MALFORMATION SYNDROME; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; REAL TIME POLYMERASE CHAIN REACTION; SINGLE NUCLEOTIDE POLYMORPHISM; SYNDACTYLY;

ABNORMALITIES, MULTIPLE; ACROCALLOSAL SYNDROME; ADULT; CHILD; FEMALE; GENES, DUPLICATE; HEDGEHOG PROTEINS; HUMANS; INFANT, NEWBORN; LIMB DEFORMITIES, CONGENITAL; MALE; POLYMORPHISM, SINGLE NUCLEOTIDE; SYNDACTYLY;

ERINACEIDAE;

EID: 84862785232     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2011.250     Document Type: Article

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