New X-linked syndrome with severe mental retardation, severely impaired vision, severe hearing defect, epileptic seizures, spasticity, restricted joint mobility, and early death.
about
X-linked disorders with cerebellar dysgenesisA new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22.Localisation of a gene for non-specific X linked mental retardation (MRX46) to Xq25-q26On the Teneurin track: a new synaptic organization molecule emergesCharacterization of ARHGEF6, a guanine nucleotide exchange factor for Rho GTPases and a candidate gene for X-linked mental retardation: mutation screening in Börjeson-Forssman-Lehmann syndrome and MRX27A unique form of mental retardation with a distinctive phenotype maps to Xq26-q27.Human teneurin-1 is a direct target of the homeobox transcription factor EMX2 at a novel alternate promoter.Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome.Linkage mapping of a severe X-linked mental retardation syndrome.X linked severe mental retardation, craniofacial dysmorphology, epilepsy, ophthalmoplegia, and cerebellar atrophy in a large South African kindred is localised to Xq24-q27.Recessive (true) microcephaly: a case report with neuropathological observations.X-linked mental retardation: in pursuit of a gene map.Review of X-linked syndromes with arthrogryposis or early contractures-aid to diagnosis and pathway identification.Loss of ARHGEF6 Causes Hair Cell Stereocilia Deficits and Hearing Loss in Mice
P2860
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P2860
New X-linked syndrome with severe mental retardation, severely impaired vision, severe hearing defect, epileptic seizures, spasticity, restricted joint mobility, and early death.
description
1993 nî lūn-bûn
@nan
1993年の論文
@ja
1993年論文
@yue
1993年論文
@zh-hant
1993年論文
@zh-hk
1993年論文
@zh-mo
1993年論文
@zh-tw
1993年论文
@wuu
1993年论文
@zh
1993年论文
@zh-cn
name
New X-linked syndrome with sev ...... int mobility, and early death.
@en
type
label
New X-linked syndrome with sev ...... int mobility, and early death.
@en
prefLabel
New X-linked syndrome with sev ...... int mobility, and early death.
@en
P2093
P356
P1476
New X-linked syndrome with sev ...... int mobility, and early death.
@en
P2093
P304
P356
10.1002/AJMG.1320450527
P577
1993-03-01T00:00:00Z