A new dominant gene mental retardation syndrome. Association with small stature, tapering fingers, characteristic facies, and possible hydrocephalus.
about
Mutation analysis of the RSK2 gene in Coffin-Lowry patients: extensive allelic heterogeneity and a high rate of de novo mutationsStimulus-induced myoclonus treated effectively with clonazepam in genetically confirmed Coffin-Lowry syndrome.Ras and Rap signaling in synaptic plasticity and mental disorders.A unique form of mental retardation with a distinctive phenotype maps to Xq26-q27.The Coffin-Lowry syndrome."Cataplexy" and muscle ultrasound abnormalities in Coffin-Lowry syndromeCoffin-Lowry syndrome: clinical and molecular features.Coffin-Lowry syndrome.RSK2 represses HSF1 activation during heat shock.Confirmation and refinement of the genetic localization of the Coffin-Lowry syndrome locus in Xp22.1-p22.2.Recurrent Nonconvulsive Status Epilepticus in a Patient with Coffin-Lowry Syndrome.Critical role for Rsk2 in T-lymphocyte activationInsights into the regulation of 5-HT2A serotonin receptors by scaffolding proteins and kinases.Delineation of the mechanisms of aberrant splicing caused by two unusual intronic mutations in the RSK2 gene involved in Coffin-Lowry syndrome.Unusual splice-site mutations in the RSK2 gene and suggestion of genetic heterogeneity in Coffin-Lowry syndrome.A rational approach to the child with mental retardation for the paediatricianRapid immunoblot and kinase assay tests for a syndromal form of X linked mental retardation: Coffin-Lowry syndromeMechanical ventilation in Coffin-Lowry syndrome: a case report.Perioperative management of a patient with Coffin-Lowry syndrome complicated by severe obesity: A case report and literature review.The natural history of spinal deformity in patients with Coffin-Lowry syndrome.
P2860
Q24539742-506C0511-77A2-4A0C-A0D0-4BB2C34DD283Q30419148-4DCB1385-CC0C-4F46-8FEE-E01F7F01BB07Q30431817-9816BEE3-6BEB-4672-B4C2-A5C5BADD83B1Q30447154-77F0368E-4299-4F4A-A623-B52FC5C30080Q33676721-F3D40ED9-17EE-4EE3-A47B-E855A9A01820Q33680152-457C2B05-95FF-4361-B7AB-C514BA61951AQ34152932-2BC7762E-63F2-43B9-82E5-9C7949FCEAE0Q34329182-DC2E43E7-B525-4796-9C0B-7D76A6013535Q35084015-664E1836-E18B-4B2B-9ACF-54909D003B62Q35195476-3C9BCC3D-9A8A-4390-9534-FBDDDDBF5480Q35905480-D4BFB2DB-C9DD-4126-9256-9DE7DEA91B0AQ36384702-31D81345-9D07-4DB2-9182-B8587D2F069BQ37068810-94CEE06C-F2E1-4034-A744-3BF5F1831D3BQ37071684-896E23C4-8359-4181-AFF3-BF7857004F95Q37217152-BA3CD6FE-01E7-4DF0-AD90-14EE5D1C860AQ37481950-06599CBE-5F5B-40DD-8627-2919ACB44586Q41818950-C6E9B6C7-E4A9-47C2-A1D7-78199DF38653Q42331611-9D216CCB-AD93-431B-B661-CAB15EE0F270Q47160745-0A1D8430-FE7C-40BC-AA57-6408A55EECAFQ49874678-7CB3C09C-87AD-4AF6-BF51-FDED4A97EBEA
P2860
A new dominant gene mental retardation syndrome. Association with small stature, tapering fingers, characteristic facies, and possible hydrocephalus.
description
1971 nî lūn-bûn
@nan
1971 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
1971 թվականի հունիսին հրատարակված գիտական հոդված
@hy
1971年の論文
@ja
1971年学术文章
@wuu
1971年学术文章
@zh-cn
1971年学术文章
@zh-hans
1971年学术文章
@zh-my
1971年学术文章
@zh-sg
1971年學術文章
@yue
name
A new dominant gene mental ret ...... s, and possible hydrocephalus.
@ast
A new dominant gene mental ret ...... s, and possible hydrocephalus.
@en
A new dominant gene mental ret ...... s, and possible hydrocephalus.
@nl
type
label
A new dominant gene mental ret ...... s, and possible hydrocephalus.
@ast
A new dominant gene mental ret ...... s, and possible hydrocephalus.
@en
A new dominant gene mental ret ...... s, and possible hydrocephalus.
@nl
prefLabel
A new dominant gene mental ret ...... s, and possible hydrocephalus.
@ast
A new dominant gene mental ret ...... s, and possible hydrocephalus.
@en
A new dominant gene mental ret ...... s, and possible hydrocephalus.
@nl
P2093
P1476
A new dominant gene mental ret ...... es, and possible hydrocephalus
@en
P2093
P304
P577
1971-06-01T00:00:00Z