Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort-Reference-Cited by-同舟云学术

Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort

Published:2022-08 Issue:8 Volume:24 Page:1753-1760
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

van der Sluijs Pleuntje J.^ORCID,Joosten Marieke,Alby Caroline,Attié-Bitach Tania,Gilmore Kelly,Dubourg Christele,Fradin Mélanie,Wang Tianyun,Kurtz-Nelson Evangeline C.,Ahlers Kaitlyn P.,Arts Peer,Barnett Christopher P.,Ashfaq Myla,Baban Anwar,van den Born Myrthe,Borrie Sarah,Busa Tiffany,Byrne Alicia,Carriero Miriam,Cesario Claudia,Chong Karen,Cueto-González Anna Maria,Dempsey Jennifer C.,Diderich Karin E.M.,Doherty Dan,Farholt Stense,Gerkes Erica H.,Gorokhova Svetlana,Govaerts Lutgarde C.P.,Gregersen Pernille A.,Hickey Scott E.,Lefebvre Mathilde,Mari Francesca,Martinovic Jelena,Northrup Hope,O’Leary Melanie,Parbhoo Kareesma,Patrier Sophie,Popp Bernt,Santos-Simarro Fernando,Stoltenburg Corinna,Thauvin-Robinet Christel,Thompson Elisabeth,Vulto-van Silfhout Anneke T.,Zahir Farah R.,Scott Hamish S.,Earl Rachel K.,Eichler Evan E.,Vora Neeta L.,Wilnai Yael,Giordano Jessica L.,Wapner Ronald J.,Rosenfeld Jill A.,Haak Monique C.,Santen Gijs W.E.^ORCID

Publisher

Elsevier BV

Subject

Genetics (clinical)

Reference25 articles.

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2. A comprehensive molecular study on Coffin–Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling;Wieczorek;Hum Mol Genet,2013

3. Coffin–Siris syndrome is a SWI/SNF complex disorder;Tsurusaki;Clin Genet,2014

4. Genotype-phenotype correlation of Coffin–Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A;Kosho;Am J Med Genet C Semin Med Genet,2014

5. Clinical correlations of mutations affecting six components of the SWI/SNF complex: detailed description of 21 patients and a review of the literature;Kosho;Am J Med Genet A,2013

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4. ARID1A-BAF coordinates ZIC2 genomic occupancy for epithelial to mesenchymal transition in cranial neural crest lineage commitment;2024-04-03

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