Congenital fibrosis of the extraocular muscles (autosomal dominant congenital external ophthalmoplegia): genetic homogeneity, linkage refinement, and physical mapping on chromosome 12.
about
Congenital fibrosis of the extraocular muscles type 2, an inherited exotropic strabismus fixus, maps to distal 11q13.Clinical and surgical data of affected members of a classic CFEOM I familyAnalysis of human sarcospan as a candidate gene for CFEOM1CFEOM1, the classic familial form of congenital fibrosis of the extraocular muscles, is genetically heterogeneous but does not result from mutations in ARIXAbnormalities of the oculomotor nerve in congenital fibrosis of the extraocular muscles and congenital oculomotor palsy.Locus heterogeneity in autosomal dominant congenital external ophthalmoplegia (CFEOM)Extraocular muscle is defined by a fundamentally distinct gene expression profile.Congenital abnormalities of cranial nerve development: overview, molecular mechanisms, and further evidence of heterogeneity and complexity of syndromes with congenital limitation of eye movements.Evidence of an asymmetrical endophenotype in congenital fibrosis of extraocular muscles type 3 resulting from TUBB3 mutationsKIF21A mutations in two Chinese families with congenital fibrosis of the extraocular muscles (CFEOM).A gene for isolated congenital ptosis maps to a 3-cM region within 1p32-p34.1.Phenotypic heterogeneity may occur in congenital fibrosis of the extraocular muscles.X linked dominant congenital isolated bilateral ptosis: the definition and characterisation of a new condition.Congenital innervation dysgenesis syndrome (CID)/congenital cranial dysinnervation disorders (CCDDs)Brain Abnormalities in Congenital Fibrosis of the Extraocular Muscles Type 1: A Multimodal MRI Imaging StudyKIF21A mutation in two Chinese families with congenital fibrosis of the extraocular muscles type 1 and 3Ocular congenital cranial dysinnervation disorders (CCDDs): insights into axon growth and guidance.Genes on bovine chromosome 18 associated with bilateral convergent strabismus with exophthalmos in German Brown cattle.
P2860
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P2860
Congenital fibrosis of the extraocular muscles (autosomal dominant congenital external ophthalmoplegia): genetic homogeneity, linkage refinement, and physical mapping on chromosome 12.
description
1995 nî lūn-bûn
@nan
1995年の論文
@ja
1995年論文
@yue
1995年論文
@zh-hant
1995年論文
@zh-hk
1995年論文
@zh-mo
1995年論文
@zh-tw
1995年论文
@wuu
1995年论文
@zh
1995年论文
@zh-cn
name
Congenital fibrosis of the ext ...... ical mapping on chromosome 12.
@ast
Congenital fibrosis of the ext ...... ical mapping on chromosome 12.
@en
type
label
Congenital fibrosis of the ext ...... ical mapping on chromosome 12.
@ast
Congenital fibrosis of the ext ...... ical mapping on chromosome 12.
@en
prefLabel
Congenital fibrosis of the ext ...... ical mapping on chromosome 12.
@ast
Congenital fibrosis of the ext ...... ical mapping on chromosome 12.
@en
P2093
P2860
P1476
Congenital fibrosis of the ext ...... sical mapping on chromosome 12
@en
P2093
A Loewenstein
B de Vries
I Marondel
R Kucherlapati
W A Houtman
P2860
P304
P407
P577
1995-11-01T00:00:00Z