Literature DB >> 31687260

Phenotypic Variation between Monochorionic Diamniotic Twins with Coffin-Siris Syndrome.

Brett LaBrecque1,2, Marioxy Contreras1, Jessica Giordano1,2, Elvira Parravicini1,2.   

Abstract

The first known documented case of monochorionic-diamniotic twins with Coffin-Siris syndrome is described in this study. This case is notable because of the phenotypic differences between infants despite having identical genomes and causative variants. Also unique to this case is the clinical influence of early diagnosis using precision medicine techniques. © Thieme Medical Publishers.

Entities:  

Keywords:  early diagnosis; genetics; neonatology; precision medicine; whole-exome sequencing

Year:  2019        PMID： 31687260      PMCID： PMC6824890          DOI： 10.1055/s-0039-1685500

Source DB:  PubMed          Journal:  J Pediatr Genet        ISSN： 2146-460X


  4 in total

1.  The Coffin-Siris syndrome: a proposed diagnostic approach and assessment of 15 overlapping cases.

Authors:  Samantha A Schrier; Joann N Bodurtha; Barbara Burton; Albert E Chudley; Mary Anne D Chiong; Maria Gabriella D'avanzo; Sally Ann Lynch; Antonio Musio; Dmitriy M Nyazov; Pedro A Sanchez-Lara; Stavit A Shalev; Matthew A Deardorff
Journal:  Am J Med Genet A       Date:  2012-06-18       Impact factor: 2.802

2.  The Coffin-Siris syndrome: report of a family and further delineation.

Authors:  M Haspeslagh; J P Fryns; H van den Berghe
Journal:  Clin Genet       Date:  1984-10       Impact factor: 4.438

3.  A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.

Authors:  Dagmar Wieczorek; Nina Bögershausen; Filippo Beleggia; Sabine Steiner-Haldenstätt; Esther Pohl; Yun Li; Esther Milz; Marcel Martin; Holger Thiele; Janine Altmüller; Yasemin Alanay; Hülya Kayserili; Ludger Klein-Hitpass; Stefan Böhringer; Andreas Wollstein; Beate Albrecht; Koray Boduroglu; Almuth Caliebe; Krystyna Chrzanowska; Ozgur Cogulu; Francesca Cristofoli; Johanna Christina Czeschik; Koenraad Devriendt; Maria Teresa Dotti; Nursel Elcioglu; Blanca Gener; Timm O Goecke; Malgorzata Krajewska-Walasek; Encarnación Guillén-Navarro; Joussef Hayek; Gunnar Houge; Esra Kilic; Pelin Özlem Simsek-Kiper; Vanesa López-González; Alma Kuechler; Stanislas Lyonnet; Francesca Mari; Annabella Marozza; Michèle Mathieu Dramard; Barbara Mikat; Gilles Morin; Fanny Morice-Picard; Ferda Ozkinay; Anita Rauch; Alessandra Renieri; Sigrid Tinschert; G Eda Utine; Catheline Vilain; Rossella Vivarelli; Christiane Zweier; Peter Nürnberg; Sven Rahmann; Joris Vermeesch; Hermann-Josef Lüdecke; Michael Zeschnigk; Bernd Wollnik
Journal:  Hum Mol Genet       Date:  2013-08-01       Impact factor: 6.150

4.  Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Authors:  Sue Richards; Nazneen Aziz; Sherri Bale; David Bick; Soma Das; Julie Gastier-Foster; Wayne W Grody; Madhuri Hegde; Elaine Lyon; Elaine Spector; Karl Voelkerding; Heidi L Rehm
Journal:  Genet Med       Date:  2015-03-05       Impact factor: 8.822
  4 in total

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