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).
| Original language | English (US) |
|---|---|
| Pages (from-to) | 432-435 |
| Number of pages | 4 |
| Journal | Neurology |
| Volume | 59 |
| Issue number | 3 |
| State | Published - Aug 13 2002 |
| Externally published | Yes |
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ASJC Scopus subject areas
- Neuroscience(all)
Cite this
Familial horizontal gaze palsy with progressive scoliosis maps to chromosome 11q23-25. / Jen, J.; Coulin, C. J.; Bosley, Thomas; Salih, M. A M; Sabatti, C.; Nelson, S. F.; Baloh, R. W.
In: Neurology, Vol. 59, No. 3, 13.08.2002, p. 432-435.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Familial horizontal gaze palsy with progressive scoliosis maps to chromosome 11q23-25
AU - Jen, J.
AU - Coulin, C. J.
AU - Bosley, Thomas
AU - Salih, M. A M
AU - Sabatti, C.
AU - Nelson, S. F.
AU - Baloh, R. W.
PY - 2002/8/13
Y1 - 2002/8/13
N2 - 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).
AB - 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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UR - http://www.scopus.com/inward/citedby.url?scp=0037072250&partnerID=8YFLogxK
M3 - Article
C2 - 12177379
AN - SCOPUS:0037072250
VL - 59
SP - 432
EP - 435
JO - Neurology
JF - Neurology
SN - 0028-3878
IS - 3
ER -