A new neurological syndrome with mental retardation, choreoathetosis, and abnormal behavior maps to chromosome Xp11.

A new neurological syndrome with mental retardation, choreoathetosis, and abnormal behavior maps to chromosome Xp11.

Item
http://www.wikidata.org/entity/Q34145980
A novel mutation in the HSD17B10 gene of a 10-year-old boy with refractory epilepsy, choreoathetosis and learning disabilityTM4SF10 gene sequencing in XLMR patients identifies common polymorphisms but no disease-associated mutationThe reduced expression of the HADH2 protein causes X-linked mental retardation, choreoathetosis, and abnormal behaviorDIA1R is an X-linked gene related to Deleted In Autism-1.Syndromic XLMR genes (MRXS): update 2000.Genetic factors in athetoid cerebral palsy.Investigation of sex differences in the expression of RORA and its transcriptional targets in the brain as a potential contributor to the sex bias in autism.Genome-wide identification of transcriptional targets of RORA reveals direct regulation of multiple genes associated with autism spectrum disorder.A novel HSD17B10 mutation impairing the activities of the mitochondrial RNase P complex causes X-linked intractable epilepsy and neurodevelopmental regressionHydroxysteroid 17-Beta Dehydrogenase Type 10 Disease in Siblings.HSD10 disease: clinical consequences of mutations in the HSD17B10 gene.Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation in the MECP2 gene: is there a need for routine screening?Ocular manifestations in the X-linked intellectual disability syndromes.Movement disorders in mitochondrial disease.
P2860

A new neurological syndrome with mental retardation, choreoathetosis, and abnormal behavior maps to chromosome Xp11.

Item
http://www.wikidata.org/entity/Q34145980
description
1999 nî lūn-bûn
@nan
1999 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
A new neurological syndrome wi ...... avior maps to chromosome Xp11.
@ast
A new neurological syndrome wi ...... avior maps to chromosome Xp11.
@en
A new neurological syndrome wi ...... avior maps to chromosome Xp11.
@nl
type
label
A new neurological syndrome wi ...... avior maps to chromosome Xp11.
@ast
A new neurological syndrome wi ...... avior maps to chromosome Xp11.
@en
A new neurological syndrome wi ...... avior maps to chromosome Xp11.
@nl
prefLabel
A new neurological syndrome wi ...... avior maps to chromosome Xp11.
@ast
A new neurological syndrome wi ...... avior maps to chromosome Xp11.
@en
A new neurological syndrome wi ...... avior maps to chromosome Xp11.
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P698
P932
P356
P1433
P1476
A new neurological syndrome wi ...... havior maps to chromosome Xp11
@en
P2093
P2860
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P698
P932