Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects.
Nat Genet
; 27(1): 17-8, 2001 Jan.
Article
en En
| MEDLINE
| ID: mdl-11137991
ABSTRACT
Inherited defects of skull ossification often manifest as symmetric parietal foramina (PFM; MIM 168500). We previously identified mutations of MSX2 in non-syndromic PFM and demonstrated genetic heterogeneity. Deletions of 11p11-p12 (proximal 11p deletion syndrome, P11pDS; MIM 601224) are characterized by multiple exostoses, attributable to haploinsufficiency of EXT2 and PFM. Here we identify ALX4, which encodes a paired-related homeodomain transcription factor, as the PFM disease gene in P11pDS.
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Base de datos:
MEDLINE
Asunto principal:
Osteogénesis
/
Cráneo
/
Proteínas
/
Genes Homeobox
/
Anomalías Craneofaciales
/
Proteínas de Unión al ADN
/
Mutación
Tipo de estudio:
Etiology_studies
/
Prognostic_studies
Límite:
Animals
/
Humans
Idioma:
En
Revista:
Nat Genet
Asunto de la revista:
GENETICA MEDICA
Año:
2001
Tipo del documento:
Article
País de afiliación:
Reino Unido