Familial horizontal gaze palsy with progressive scoliosis maps to chromosome 11q23-25

Familial horizontal gaze palsy with progressive scoliosis maps to chromosome 11q23-25

Item
http://www.wikidata.org/entity/Q28217934
Q28187461
sameAs
Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesisHuman CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndromePatients with horizontal gaze palsy and progressive scoliosis due to ROBO3 E319K mutation have both uncrossed and crossed central nervous system pathways and perform normally on neuropsychological testing.Horizontal gaze palsy with progressive scoliosis: CT and MR findings.Congenital abnormalities of cranial nerve development: overview, molecular mechanisms, and further evidence of heterogeneity and complexity of syndromes with congenital limitation of eye movements.Congenital innervation dysgenesis syndrome (CID)/congenital cranial dysinnervation disorders (CCDDs)The genetic basis of complex strabismus.Navigating their way to the clinic: emerging roles for axon guidance molecules in neurological disorders and injury.From mice to men: lessons from mutant ataxic mice.Biallelic mutations in human DCC cause developmental split-brain syndrome.Congenital cranial dysinnervation disorders.The Robo3 receptor, a key player in the development, evolution, and function of commissural systems.Functional MRI, DTI and neurophysiology in horizontal gaze palsy with progressive scoliosis.The locus responsible for horizontal gaze palsy/progressive scoliosis and brainstem hypoplasia is refined to a 9-cM region on chromosome 11q23
P2860

Familial horizontal gaze palsy with progressive scoliosis maps to chromosome 11q23-25

Item
http://www.wikidata.org/entity/Q28217934
description
2002 nî lūn-bûn
@nan
2002 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
@wuu
name
Familial horizontal gaze palsy with progressive scoliosis maps to chromosome 11q23-25
@ast
Familial horizontal gaze palsy with progressive scoliosis maps to chromosome 11q23-25
@en
Familial horizontal gaze palsy with progressive scoliosis maps to chromosome 11q23-25
@nl
type
label
Familial horizontal gaze palsy with progressive scoliosis maps to chromosome 11q23-25
@ast
Familial horizontal gaze palsy with progressive scoliosis maps to chromosome 11q23-25
@en
Familial horizontal gaze palsy with progressive scoliosis maps to chromosome 11q23-25
@nl
prefLabel
Familial horizontal gaze palsy with progressive scoliosis maps to chromosome 11q23-25
@ast
Familial horizontal gaze palsy with progressive scoliosis maps to chromosome 11q23-25
@en
Familial horizontal gaze palsy with progressive scoliosis maps to chromosome 11q23-25
@nl
P1433
P1476
P2093
P304
P31
P356
P407
P433
P478
P577
P698
P921
P356
P1433
P1476
Familial horizontal gaze palsy with progressive scoliosis maps to chromosome 11q23-25
@en
P2093
P304
P31
P356
P407
P433
P478
P577
P698
P921