Exome sequencing identifies a recurrent de novo ZSWIM6 mutation associated with acromelic frontonasal dysostosis.
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The structure and regulation of Cullin 2 based E3 ubiquitin ligases and their biological functionsThe Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and OpportunitiesNew insights into craniofacial malformationsMinorityReport, software for generalized analysis of causal genetic variantsAcromelic frontonasal dysostosis and ZSWIM6 mutation: phenotypic spectrum and mosaicismFrontonasal Dysplasia: Towards an Understanding of Molecular and Developmental Aetiology.denovo-db: a compendium of human de novo variants.Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era.Exome Sequencing: Current and Future Perspectives.Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research.Mllt10 knockout mouse model reveals critical role of Af10-dependent H3K79 methylation in midfacial developmentMutations in DCDC2 (doublecortin domain containing protein 2) in neonatal sclerosing cholangitis.Prenatal phthalate exposure and altered patterns of DNA methylation in cord blood.A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations.Loss of the neurodevelopmental gene Zswim6 alters striatal morphology and motor regulation.Clinical delineation of a subtype of frontonasal dysplasia with creased nasal ridge and upper limb anomalies: Report of six unrelated patients.
P2860
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P2860
Exome sequencing identifies a recurrent de novo ZSWIM6 mutation associated with acromelic frontonasal dysostosis.
description
2014 nî lūn-bûn
@nan
2014 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
Exome sequencing identifies a ...... omelic frontonasal dysostosis.
@ast
Exome sequencing identifies a ...... omelic frontonasal dysostosis.
@en
type
label
Exome sequencing identifies a ...... omelic frontonasal dysostosis.
@ast
Exome sequencing identifies a ...... omelic frontonasal dysostosis.
@en
prefLabel
Exome sequencing identifies a ...... omelic frontonasal dysostosis.
@ast
Exome sequencing identifies a ...... omelic frontonasal dysostosis.
@en
P2093
P2860
P3181
P1476
Exome sequencing identifies a ...... omelic frontonasal dysostosis.
@en
P2093
Anne V Hing
Brig Mecham
Christine M Clarke
Deborah A Nickerson
Francisco A Perez
Jeremy A Horst
Joshua D Smith
Lisa Maves
Michael L Cunningham
Nathan M Johnson
P2860
P304
P3181
P356
10.1016/J.AJHG.2014.07.008
P407
P577
2014-08-01T00:00:00Z