Familial horizontal gaze palsy with progressive scoliosis maps to chromosome 11q23-25.
Neurology
; 59(3): 432-5, 2002 Aug 13.
Article
en En
| MEDLINE
| ID: mdl-12177379
ABSTRACT
Horizontal gaze palsy with progressive scoliosis (HGPS) is a rare, autosomal recessive disorder characterized by a congenital absence of conjugate horizontal eye movement, with progressive scoliosis developing in childhood or adolescence. The authors identified two unrelated consanguineous families with HGPS. Genomewide homozygosity mapping and linkage analysis mapped the disease locus to a 30-cM interval on chromosome 11q23-25 (combined maximum multipoint lod score Z = 5.46).
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Escoliosis
/
Cromosomas Humanos Par 11
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Trastornos de la Motilidad Ocular
/
Mapeo Cromosómico
Tipo de estudio:
Prognostic_studies
Límite:
Adolescent
/
Child
/
Child, preschool
/
Female
/
Humans
/
Infant
/
Male
/
Newborn
Idioma:
En
Revista:
Neurology
Año:
2002
Tipo del documento:
Article
País de afiliación:
Estados Unidos