Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene

Journal of Medical Genetics

Volumn 43, Issue 2, 2006, Pages 148-152

  Van Maldergem, Lionel ^a,i   Siitonen, H A ^b   Jalkh, N ^c   Chouery, E ^c   De Roy, M ^a   Delague, V ^d   Muenke, M ^e   Jabs, E W ^f   Cai, J ^f   Wang, L L ^g   Plon, S E ^g   Fourneau, C ^a   Kestila M ^b   Gillerot, Y ^a   Megarbane A ^c   Verloes, A ^h  

^a INSTITUTE OF PATHOLOGY AND GENETICS   (Belgium)

^b NATIONAL PUBLIC HEALTH INSTITUTE   (Finland)

^c SAINT JOSEPH UNIVERSITY   (Lebanon)

^d INSERM   (France)

^e NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^f JOHNS HOPKINS UNIVERSITY   (United States)

^g BAYLOR COLLEGE OF MEDICINE   (United States)

^h HÔPITAL ROBERT DEBRÉ   (France)

ⁱ NONE   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BALLER GEROLD SYNDROME; CASE REPORT; CLINICAL FEATURE; CRANIOFACIAL SYNOSTOSIS; DISEASE ASSOCIATION; DNA SPLICING; EXON; FEMALE; FETUS; FRAMESHIFT MUTATION; GENE; GENE MUTATION; GENETIC ASSOCIATION; HETEROZYGOSITY; HUMAN; MALE; MALFORMATION SYNDROME; MISSENSE MUTATION; NEWBORN; POIKILODERMA; PRIORITY JOURNAL; RADIUS APLASIA; RAPADILINO SYNDROME; RECQL4 GENE; ROTHMUND THOMSON SYNDROME; SHORT STATURE;

EID: 32944476196     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2005.031781     Document Type: Article

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