GeneMatcher aids in the identification of a new malformation syndrome with intellectual disability, unique facial dysmorphisms, and skeletal and connective tissue abnormalities caused by de novo variants in HNRNPK.

GeneMatcher aids in the identification of a new malformation syndrome with intellectual disability, unique facial dysmorphisms, and skeletal and connective tissue abnormalities caused by de novo variants in HNRNPK.

Item
http://www.wikidata.org/entity/Q36108386
The Increasing Importance of Gene-Based AnalysesHACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome.The Matchmaker Exchange: a platform for rare disease gene discoveryA microdeletion at Xq22.2 implicates a glycine receptor GLRA4 involved in intellectual disability, behavioral problems and craniofacial anomalies.A de novo frameshift in HNRNPK causing a Kabuki-like syndrome with nodular heterotopia.International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases.Unraveling molecular pathways shared by Kabuki and Kabuki-like syndromes."Matching" consent to purpose: The example of the Matchmaker Exchange.Aberrant hnRNP K expression: All roads lead to cancerCellular Taxonomy of the Mouse Striatum as Revealed by Single-Cell RNA-Seq.Lessons learned from the search for genes responsible for rare Mendelian disorders.Clinical spectrum of Kabuki-like syndrome caused by HNRNPK haploinsufficiency.A case of atypical Kabuki syndrome arising from a novel missense variant in HNRNPK.Congenital heart defects in molecularly proven Kabuki syndrome patients.Marked yield of re-evaluating phenotype and exome/target sequencing data in 33 individuals with intellectual disabilities.De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder.Phenotypic spectrum of Au-Kline syndrome: a report of six new cases and review of the literature
P2860

GeneMatcher aids in the identification of a new malformation syndrome with intellectual disability, unique facial dysmorphisms, and skeletal and connective tissue abnormalities caused by de novo variants in HNRNPK.

Item
http://www.wikidata.org/entity/Q36108386
description
2015 nî lūn-bûn
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2015年の論文
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2015年論文
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2015年論文
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2015年論文
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2015年論文
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2015年論文
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2015年论文
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2015年论文
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2015年论文
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name
GeneMatcher aids in the identi ...... by de novo variants in HNRNPK.
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GeneMatcher aids in the identi ...... by de novo variants in HNRNPK.
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type
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GeneMatcher aids in the identi ...... by de novo variants in HNRNPK.
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GeneMatcher aids in the identi ...... by de novo variants in HNRNPK.
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prefLabel
GeneMatcher aids in the identi ...... by de novo variants in HNRNPK.
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GeneMatcher aids in the identi ...... by de novo variants in HNRNPK.
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P2093
P2860
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GeneMatcher aids in the identi ...... by de novo variants in HNRNPK.
@en
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P698
P921
P932