A novel mutation in the MSX2 homeobox gene of a family with foramina parietalia permagna, headache and vascular anomaly

European Journal of Pediatrics

Volumn 165, Issue 10, 2006, Pages 734-735

  Ghassibé, Michella ^a   Bernier, Vincent ^b,c   Boon, Laurence M ^a,c   Vikkula, Miikka ^a  

^a DE DUVE INSTITUTE   (Belgium)

^b Centres Hospitaliers Chrétiens ^*  (Belgium)

^c UNIVERSITÉ CATHOLIQUE DE LOUVAIN   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSCRIPTION FACTOR MSX2;

ARTICLE; CLEIDOCRANIAL DYSPLASIA; CLINICAL ARTICLE; CLINICAL EXAMINATION; CLINICAL FEATURE; CONGENITAL BLOOD VESSEL MALFORMATION; DISEASE ASSOCIATION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HEADACHE; HUMAN; PARIETAL FORAMINA ENLARGEMENT; PRIORITY JOURNAL; SKULL DEFECT;

ABNORMALITIES, MULTIPLE; DNA-BINDING PROTEINS; FAMILY HEALTH; HEADACHE; HOMEODOMAIN PROTEINS; HUMANS; MUTATION; PARIETAL BONE; PEDIGREE; SKULL; VEINS;

EID: 33748207320     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00431-006-0138-8     Document Type: Article

References (7)

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2. Mavrogiannis LA, Antonopoulou I, Baxova A, Kutilek S, Kim CA, Sugayama SM, Salamanca A, Wall SA, Morriss-Kay GM, Wilkie AOM (2001) Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects. Nat Genet 27 (1):17-18
3. Mavrogiannis LA, Taylor IB, Davies SJ, Ramos FJ, Olivares JL, Wilkie AO (2006) Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype. Eur J Hum Genet 14(2):151-158
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7. Wuyts W, Reardon W, Preis S, Homfray T, Rasore-Quartino A, Christians H, Willems PJ, Van Hul W (2000) Identification of mutations in the MSX2 homeobox gene in families affected with foramina parietalia permagna. Hum Mol Genet 9(8):1251-1255