Disruption of RAB40AL function leads to Martin--Probst syndrome, a rare X-linked multisystem neurodevelopmental human disorder
about
XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencingX-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genesA note of caution on the diagnosis of Martin-Probst syndrome by the detection of the p.D59G mutation in the RAB40AL gene.An emerging phenotype of Xq22 microdeletions in females with severe intellectual disability, hypotonia and behavioral abnormalities.Rab40b upregulation correlates with the prognosis of gastric cancer by promoting migration, invasion, and metastasis.Evidence against RAB40AL being the locus for Martin-Probst X-linked deafness-intellectual disability syndrome.Consequences of Rab GTPase dysfunction in genetic or acquired human diseases.Mutation in the X-linked RAB40AL gene (Martin-Probst syndrome) with mental retardation, sensorineural hearing loss, and anomalies of the craniofacies and genitourinary tract: a second case report.
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P2860
Disruption of RAB40AL function leads to Martin--Probst syndrome, a rare X-linked multisystem neurodevelopmental human disorder
description
2012 nî lūn-bûn
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2012 թուականի Մայիսին հրատարակուած գիտական յօդուած
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2012 թվականի մայիսին հրատարակված գիտական հոդված
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2012年の論文
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2012年論文
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2012年論文
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2012年論文
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2012年論文
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2012年論文
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2012年论文
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name
Disruption of RAB40AL function ...... rodevelopmental human disorder
@ast
Disruption of RAB40AL function ...... rodevelopmental human disorder
@en
Disruption of RAB40AL function ...... rodevelopmental human disorder
@en-gb
Disruption of RAB40AL function ...... rodevelopmental human disorder
@nl
type
label
Disruption of RAB40AL function ...... rodevelopmental human disorder
@ast
Disruption of RAB40AL function ...... rodevelopmental human disorder
@en
Disruption of RAB40AL function ...... rodevelopmental human disorder
@en-gb
Disruption of RAB40AL function ...... rodevelopmental human disorder
@nl
prefLabel
Disruption of RAB40AL function ...... rodevelopmental human disorder
@ast
Disruption of RAB40AL function ...... rodevelopmental human disorder
@en
Disruption of RAB40AL function ...... rodevelopmental human disorder
@en-gb
Disruption of RAB40AL function ...... rodevelopmental human disorder
@nl
P2093
P2860
P1476
Disruption of RAB40AL function ...... rodevelopmental human disorder
@en
P2093
Anthony Antonellis
Arti Dhiraaj
Charles E Schwartz
Cindy Skinner
James D Cavalcoli
Jennifer M Skidmore
Jirair Krikor Bedoyan
Joseph A Micucci
Julie B Kaplan
P2860
P304
P356
10.1136/JMEDGENET-2011-100575
P407
P577
2012-05-01T00:00:00Z