Association of mutations in FLNA with craniosynostosis

European Journal of Human Genetics

Volumn 23, Issue 12, 2015, Pages 1684-1688

  Fennell, Nathalie ^a   Foulds, Nicola ^b,c   Johnson, Diana S ^d   Wilson, Louise C ^e   Wyatt, Michelle ^e   Robertson, Stephen P ^f   Johnson, David ^a   Wall, Steven A ^a   Wilkie, Andrew O M ^a,g  

^a JOHN RADCLIFFE HOSPITAL   (United Kingdom)

^b PRINCESS ANNE HOSPITAL   (United Kingdom)

^c UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

^d SHEFFIELD CHILDREN S HOSPITAL   (United Kingdom)

^e GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^f UNIVERSITY OF OTAGO   (New Zealand)

^g UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

FILAMIN A; FILAMIN; FLNA PROTEIN, HUMAN;

ARTICLE; BONE DYSPLASIA; CHILD; CLINICAL ARTICLE; CRANIOFACIAL MALFORMATION; CRANIOFACIAL SYNOSTOSIS; DIFFERENTIAL DIAGNOSIS; DISEASE ASSOCIATION; FEMALE; FLNA GENE; FRONTOMETAPHYSEAL DYSPLASIA; GENE; GENE MUTATION; GENETIC ASSOCIATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HYPEROSTOSIS; INFANT; MALE; MICROGNATHIA; OTOPALATODIGITAL SPECTRUM DISORDER; PERIVENTRICULAR HETEROTOPIA; PHENOTYPIC VARIATION; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; CASE REPORT; CRANIOSYNOSTOSES; GENETICS; MISSENSE MUTATION; PHENOTYPE;

CHILD; CHILD, PRESCHOOL; CRANIOSYNOSTOSES; DIAGNOSIS, DIFFERENTIAL; FEMALE; FILAMINS; HUMANS; INFANT; MALE; MUTATION, MISSENSE; PHENOTYPE;

EID: 84948714973     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2015.31     Document Type: Article

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