Case report: A novel SON mutation in a Colombian patient with ZTTK syndrome

Autor: Diana Marcela Vasquez-Forero, Barbara Masotto, Rosario Ferrer-Avargues, Christian Martin Moya, Harry Pachajoa

Publikováno v: Frontiers in Genetics, Vol 14 (2023)

Zhu–Tokita–Takenouchi–Kim syndrome is a multisystem disorder resulting from haploinsufficiency in the SON gene, which is characterized by developmental delay/intellectual disability, seizures, facial dysmorphism, short stature, and congenital m

Externí odkaz: https://doaj.org/article/5a2a6a887d0e4948b86fc7e2daf61134

Clinical and functional heterogeneity associated with the disruption of Retinoic Acid Receptor beta

Autor: Véronique Caron, Nicolas Chassaing, Nicola Ragge, Felix Boschann, Angelina My-Hoa Ngu, Elisabeth Meloche, Sarah Chorfi, Saquib A. Lakhani, Weizhen Ji, Laurie Steiner, Julien Marcadier, Philip R. Jansen, Laura A. van de Pol, Johanna M. van Hagen, Alvaro Serrano Russi, Gwenaël Le Guyader, Magnus Nordenskjöld, Ann Nordgren, Britt-Marie Anderlid, Julie Plaisancié, Corinna Stoltenburg, Denise Horn, Anne Drenckhahn, Fadi F. Hamdan, Mathilde Lefebvre, Tania Attie-Bitach, Peggy Forey, Vasily Smirnov, Françoise Ernould, Marie-Line Jacquemont, Sarah Grotto, Alberto Alcantud, Alicia Coret, Rosario Ferrer-Avargues, Siddharth Srivastava, Catherine Vincent-Delorme, Shelby Romoser, Nicole Safina, Dimah Saade, James R. Lupski, Daniel G. Calame, David Geneviève, Nicolas Chatron, Caroline Schluth-Bolard, Kenneth A. Myers, William B. Dobyns, Patrick Calvas, Caroline Salmon, Richard Holt, Frances Elmslie, Marc Allaire, Daniil M. Prigozhin, André Tremblay, Jacques L. Michaud

Publikováno v: The DDD study 2023, ' Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta ', Genetics in Medicine, vol. 25, no. 8, 100856 . https://doi.org/10.1016/j.gim.2023.100856
Genetics in Medicine, 25(8):100856. Lippincott Williams and Wilkins

Purpose: Dominant variants in the retinoic acid receptor beta (RARB) gene underlie a syndromic form of microphthalmia, known as MCOPS12, which is associated with other birth anomalies and global developmental delay with spasticity and/or dystonia. He

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c20681a78b2c744a3e6e6190d86d13ec
https://doi.org/10.1016/j.gim.2023.100856

Characterization of a novel POLD1 missense founder mutation in a Spanish population

Autor: María Isabel Castillejo, Isabel Tena, Eva Hernández-Illán, Ana Beatriz Sánchez-Heras, Alan Codoñer-Alejos, María José Juan, Rosario Ferrer-Avargues, José Luis Soto, Ester Martín-Tomás, Ángel Segura, Víctor Manuel Barberá, Virginia Díez-Obrero, Adela Castillejo

Publikováno v: RUA. Repositorio Institucional de la Universidad de Alicante
Universidad de Alicante (UA)

Background: We identified a new and a recurrent POLD1 mutation associated with predisposition to colorectal cancer (CRC). We characterized the molecular and clinical nature of the potential POLD1 founder mutation in families from Valencia (Spain). Me

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ec7f56d57c71dca6af373f58b99c2c1
https://doi.org/10.1002/jgm.2951