A comprehensive screen for TWIST mutations in patients with craniosynostosis identifies a new microdeletion syndrome of chromosome band 7p21.1

American Journal of Human Genetics

Volumn 63, Issue 5, 1998, Pages 1282-1293

  Johnson, David ^a,b   Horsley, Sharon W ^a   Moloney, Dominique M ^a,b   Oldridge, Michael ^a   Twigg, Stephen R F ^a   Walsh, Sinead ^a   Barrow, Margaret ^c   Njølstad, Pål R ^d   Kunz, Jürgen ^e   Ashworth, Geraldine J ^b   Wall, Steven A ^b   Kearney, Lyndal ^a   Wilkie, Andrew O M ^a,b  

^a JOHN RADCLIFFE HOSPITAL   (United Kingdom)

^b RADCLIFFE INFIRMARY   (United Kingdom)

^c LEICESTER ROYAL INFIRMARY   (United Kingdom)

^d UNIVERSITY OF BERGEN   (Norway)

^e PHILIPPS UNIVERSITY MARBURG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ACROCEPHALOSYNDACTYLY; ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; CRANIOFACIAL SYNOSTOSIS; DIAGNOSTIC VALUE; GENE DELETION; GENE LOCATION; GENE LOCUS; GENE SEQUENCE; GENETIC SCREENING; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL;

EID: 0032231374     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302122     Document Type: Article

References (40)

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