Mutations in BMP4 Cause Eye, Brain, and Digit Developmental Anomalies: Overlap between the BMP4 and Hedgehog Signaling Pathways

American Journal of Human Genetics

Volumn 82, Issue 2, 2008, Pages 304-319

  Bakrania, Preeti ^a   Efthymiou, Maria ^b   Klein, Johannes C ^a   Salt, Alison ^c,d   Bunyan, David J ^e,f   Wyatt, Alex ^a   Ponting, Chris P ^a   Martin, Angela ^a   Williams, Steven ^g   Lindley, Victoria ^h   Gilmore, Joanne ⁱ   Restori, Marie ^c   Robson, Anthony G ^c   Neveu, Magella M ^c   Holder, Graham E ^c   Collin, J Richard O ^c   Robinson, David O ^e,f   Farndon, Peter ^h   Johansen Berg, Heidi ^a   Gerrelli, Dianne ^b   Ragge, Nicola K ^a,c,j   more..

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c MOORFIELDS EYE HOSPITAL   (United Kingdom)

^d GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^e SALISBURY DISTRICT HOSPITAL   (United Kingdom)

^f UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

^g SHEFFIELD CHILDREN'S NHS FOUNDATION TRUST   (United Kingdom)

^h BIRMINGHAM WOMEN S HOSPITAL   (United Kingdom)

ⁱ UNIVERSITY COLLEGE LONDON   (United Kingdom)

^j BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

BONE MORPHOGENETIC PROTEIN 4; SONIC HEDGEHOG PROTEIN; BONE MORPHOGENETIC PROTEIN; PRIMER DNA; SHH PROTEIN, HUMAN; UNCLASSIFIED DRUG;

ARTICLE; BMP4 GENE; BRAIN MALFORMATION; CHROMOSOME 14Q; CONTROLLED STUDY; EMBRYO; EYE MALFORMATION; FINGER MALFORMATION; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENE EXPRESSION; GENE MUTATION; HH GENE; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPOPITUITARISM; IN SITU HYBRIDIZATION; MAJOR CLINICAL STUDY; MICROPHTHALMIA; MISSENSE MUTATION; MYOPIA; NUCLEAR MAGNETIC RESONANCE IMAGING; POLYDACTYLY; PRIORITY JOURNAL; RETINA DYSTROPHY; CHROMOSOME 14; CHROMOSOME ABERRATION; COHORT ANALYSIS; ELECTROPHYSIOLOGY; EYE; GENETICS; METABOLISM; NERVOUS SYSTEM MALFORMATION; PRENATAL DEVELOPMENT; SIGNAL TRANSDUCTION;

ANIMALIA; ERINACEIDAE;

BONE MORPHOGENETIC PROTEINS; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, PAIR 14; COHORT STUDIES; DNA PRIMERS; ELECTROPHYSIOLOGY; EYE; FRAMESHIFT MUTATION; HEDGEHOG PROTEINS; HUMANS; IN SITU HYBRIDIZATION; NERVOUS SYSTEM MALFORMATIONS; POLYDACTYLY; SIGNAL TRANSDUCTION;

EID: 40749090053     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2007.09.023     Document Type: Article

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