About: Phenotypic spectrum of Au-Kline syndrome: a report of six new cases and review of the literature

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About: Phenotypic spectrum of Au-Kline syndrome: a report of six new cases and review of the literature Goto Sponge NotDistinct Permalink

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scientific article published on 14 June 2018

Attributes	Values
rdf:type	Item
description	wetenschappelijk artikel (nl) наукова стаття, опублікована в червні 2018 (uk) article scientifique publié en 2018 (fr) im Juni 2018 veröffentlichter wissenschaftlicher Artikel (de) scientific article published on 14 June 2018 (en) artículu científicu espublizáu en xunu de 2018 (ast)
publication date	wds:Q56262003-C8DE8E18-52E2-4C00-ACE3-39D9F6FB9F1A
publication date	2018-06-14 00:00:00Z (xsd:dateTime)
exact match	wds:Q56262003-5CDA2018-6CDD-413C-A912-1A75AAF6D3BC
exact match	https://scigraph.springernature.com/pub.10.1038/s41431-018-0187-2
cites work	wds:Q56262003-0C6A67E0-7B28-4023-8DCC-D414D58806EF wds:Q56262003-1697E5FE-B9DB-4571-9927-C26A30673075 wds:Q56262003-5BAABB72-460B-4E2F-80A9-F8B59CAB421C wds:Q56262003-6B4FFA32-123B-4728-8FAA-BD2EB2293194 wds:Q56262003-8238B0FA-1476-4EE8-B805-C386C430AF08 wds:Q56262003-A213E431-4FD3-4F9A-83F9-74D39E3F77DD wds:Q56262003-A2F35178-3670-4DD1-BF6F-70415FA3DBFB wds:Q56262003-A43F08D9-298C-4E60-8242-F22AC8B84030 wds:Q56262003-E418753C-5D03-4811-A994-E745AFC079F7 wds:Q56262003-E8F183E3-7ABD-433C-A3C9-4845F4B86A62 wds:Q56262003-EACD2DE6-3019-4C29-A9D1-C91C81EA9924 wds:Q56262003-ED2CF430-1E1F-44F7-8465-C58D6E42E263
cites work	Aberrant hnRNP K expression: All roads lead to cancer Further delineation of Kabuki syndrome in 48 well-defined new individuals. Del (9q) AML: clinical and cytological characteristics and prognostic implications hnRNP K Is a Haploinsufficient Tumor Suppressor that Regulates Proliferation and Differentiation Programs in Hematologic Malignancies. 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. Clinical spectrum of Kabuki-like syndrome caused by HNRNPK haploinsufficiency. Novel interstitial 2.6 Mb deletion on 9q21 associated with multiple congenital anomalies A de novo frameshift in HNRNPK causing a Kabuki-like syndrome with nodular heterotopia. A case of atypical Kabuki syndrome arising from a novel missense variant in HNRNPK. Deletions of 9q21.3 including NTRK2 are associated with severe phenotype On the significance of craniosynostosis in a case of Kabuki syndrome with a concomitant KMT2D mutation and 3.2 Mbp de novo 10q22.3q23.1 deletion. Craniosynostosis in Kabuki syndrome.
author name string	wds:Q56262003-0AB3ED11-BBEF-4ADB-9F2F-02B0BF685370 wds:Q56262003-0DA7B2D7-316A-4FA0-A354-969826CD47DE wds:Q56262003-39BA6F87-86E0-4270-84D9-32D4D567DF7F wds:Q56262003-5ACA2A04-AF3E-40CC-B4CE-DB21927301E7 wds:Q56262003-7E438022-3FA6-4852-8ABA-E23FA68E69A4 wds:Q56262003-8F148AC1-3CB8-41F2-BCC6-FD7DA3A3C0A0 wds:Q56262003-A51F5DBD-4659-46A7-91EF-70B35E3FB650 wds:Q56262003-A76FABA5-DDEE-43E0-9151-38F9DC53135A wds:Q56262003-AD3234B2-C5A6-4B26-9451-680CAA01671A wds:Q56262003-B1E8A795-C194-415D-8A31-9F62C3EC6376 wds:Q56262003-B7EA78FA-CB86-44EF-B3FE-6FFB77B3693E wds:Q56262003-CD803FD3-2373-4D78-829A-3B08E7C1D7DE wds:Q56262003-D3986DD3-1D15-4C4D-8666-A07DB5758354
author name string	Koenraad Devriendt Helen Stewart Marilyn C Jones Gail E Graham Antonie D Kline Jillian S Parboosingh Jeroen Breckpot P Y Billie Au Marcia Ferguson Caitlin Goedhart Care for Rare Canada Consortium Carolina Galarreta Elizabeth Fanning
rdfs:label	Phenotypic spectrum of Au-Kline syndrome: a report of six new cases and review of the literature (en) Phenotypic spectrum of Au-Kline syndrome: a report of six new cases and review of the literature (nl)
skos:prefLabel	Phenotypic spectrum of Au-Kline syndrome: a report of six new cases and review of the literature (en) Phenotypic spectrum of Au-Kline syndrome: a report of six new cases and review of the literature (nl)
name	Phenotypic spectrum of Au-Kline syndrome: a report of six new cases and review of the literature (en) Phenotypic spectrum of Au-Kline syndrome: a report of six new cases and review of the literature (nl)
author	wds:Q56262003-12BB7F5D-5C0A-434D-A3C6-9FD9A81064BE wds:Q56262003-33A5438F-143E-424E-BB41-5D621C54E05C wds:Q56262003-5B3BCDF3-8954-47E8-8233-D1810116416A wds:Q56262003-BA690BB0-9F74-4788-8157-4F3E7A352F41
author	Dorothy K Grange Usha Kini A. Micheil Innes Klaas J. Wierenga
title	wds:Q56262003-15854635-7493-4B20-8A2E-7BC63BB95580
title	Phenotypic spectrum of Au-Kline syndrome: a report of six new cases and review of the literature (en)
page(s)	wds:Q56262003-49EFB69C-F6E3-445C-A753-3B68BF4116B4
page(s)	1272-1281
instance of	wds:Q56262003-1373714F-3860-4A52-BF60-F12346468D6F
instance of	scholarly article
PubMed ID	wds:Q56262003-FFDD5997-E279-4020-8FBE-8EFC4DC23C33
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/29904177
PubMed ID	29904177
published in	wds:Q56262003-91665558-A2A7-45DD-A29B-4F004403AD33
published in	European Journal of Human Genetics
issue	wds:Q56262003-86050F7F-98BE-441A-891C-01C285BC6AF4
volume	wds:Q56262003-7DF4CE74-650A-43EE-B226-D2D94B0DEC65
issue	9
volume	26
DOI	wds:Q56262003-8AB0CE54-C1F9-4B76-A267-729359313F42
DOI	http://dx.doi.org/10.1038/S41431-018-0187-2
DOI	10.1038/S41431-018-0187-2
PMCID	wds:Q56262003-8F2396D4-9097-4109-B602-645B88ADB183
PMCID	6117294
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q56262003
is cites work of	RNA-binding motifs of hnRNP K are critical for induction of antibody diversification by activation-induced cytidine deaminase
is cites work of	wds:Q94568919-1AC5433B-D228-4CB8-9FA1-56A670CBCD3A
is pr:P248 of	wdref:1ead6df7ef811eebf26e733606d0104e1e59e0a1

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