A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome.
about
PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome.Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.Reinforcing the association between distal 1q CNVs and structural brain disorder: A case of a complex 1q43-q44 CNV and a review of the literature.Further evidence that de novo missense and truncating variants in ZBTB18 cause intellectual disability with variable features.Neurological manifestations of 2q31 microdeletion syndrome.Clinical whole exome sequencing in child neurology practice.Identification of novel genetic causes of Rett syndrome-like phenotypes.A de novo nonsense mutation in ZBTB18 plus a de novo 15q13.3 microdeletion in a 6-year-old female.Toward clinical and molecular understanding of pathogenic variants in the ZBTB18 gene.Quantitative phenotypic and network analysis of 1q44 microdeletion for microcephaly.Clinical and molecular characterization of de novo loss of function variants in HNRNPU.Cytogenomic characterization of 1q43q44 deletion associated with 4q32.1q35.2 duplication and phenotype correlation
P2860
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P2860
A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome.
description
2013 nî lūn-bûn
@nan
2013 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
name
A de novo non-sense mutation i ...... q43q44 microdeletion syndrome.
@ast
A de novo non-sense mutation i ...... q43q44 microdeletion syndrome.
@en
type
label
A de novo non-sense mutation i ...... q43q44 microdeletion syndrome.
@ast
A de novo non-sense mutation i ...... q43q44 microdeletion syndrome.
@en
prefLabel
A de novo non-sense mutation i ...... q43q44 microdeletion syndrome.
@ast
A de novo non-sense mutation i ...... q43q44 microdeletion syndrome.
@en
P2093
P2860
P356
P1476
A de novo non-sense mutation i ...... q43q44 microdeletion syndrome.
@en
P2093
Bregje W van Bon
Ernie M H F Bongers
Han G Brunner
Jeroen Schoots
Lies H Hoefsloot
Nine V A M Knoers
Sixto García-Miñaúr
Sonja A de Munnik
P2860
P2888
P304
P356
10.1038/EJHG.2013.249
P577
2013-11-06T00:00:00Z