Frank-ter Haar syndrome associated with sagittal craniosynostosis and raised intracranial pressure

BMC Medical Genetics

Volumn 13, Issue , 2012, Pages

  Bendon, Charlotte L ^a   Fenwick, Aimée L ^b   Hurst, Jane A ^a,e   Nürnberg, Gudrun ^c   Nürnberg, Peter ^c,d   Wall, Steven A ^a   Wilkie, Andrew O M ^a,b   Johnson, David ^a  

^a JOHN RADCLIFFE HOSPITAL   (United Kingdom)

^b UNIVERSITY OF OXFORD   (United Kingdom)

^c UNIVERSITY OF COLOGNE   (Germany)

^d UNIVERSITY OF COLOGNE   (Germany)

^e NONE   (United Kingdom)

Author keywords

Craniosynostosis; Frank ter Haar syndrome; Intracranial pressure; Sagittal synostosis

Indexed keywords

MEMBRANE PROTEIN; SH3PXD2B PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; CASE REPORT; COMPUTER ASSISTED TOMOGRAPHY; CRANIOFACIAL SYNOSTOSIS; DISEASE ASSOCIATION; EXON; FEMALE; FRANK TER HAAR SYNDROME; GENE DELETION; GENE MUTATION; GENETIC DISORDER; HUMAN; INTRACRANIAL PRESSURE; MALE; PARENT; PHENOTYPE; SIBLING;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; CRANIOFACIAL ABNORMALITIES; CRANIOSYNOSTOSES; DEVELOPMENTAL DISABILITIES; FEMALE; HEART DEFECTS, CONGENITAL; HUMANS; INTRACRANIAL PRESSURE; MALE; MUTATION; OSTEOCHONDRODYSPLASIAS; PEDIGREE;

EID: 84868572132     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-13-104     Document Type: Article

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