Ontology highlight
ABSTRACT:
SUBMITTER: Carapito R
PROVIDER: S-EPMC5663364 | biostudies-literature | 2017 Nov
REPOSITORIES: biostudies-literature
Carapito Raphael R Konantz Martina M Paillard Catherine C Miao Zhichao Z Pichot Angélique A Leduc Magalie S MS Yang Yaping Y Bergstrom Katie L KL Mahoney Donald H DH Shardy Deborah L DL Alsaleh Ghada G Naegely Lydie L Kolmer Aline A Paul Nicodème N Hanauer Antoine A Rolli Véronique V Müller Joëlle S JS Alghisi Elisa E Sauteur Loïc L Macquin Cécile C Morlon Aurore A Sancho Consuelo Sebastia CS Amati-Bonneau Patrizia P Procaccio Vincent V Mosca-Boidron Anne-Laure AL Marle Nathalie N Osmani Naël N Lefebvre Olivier O Goetz Jacky G JG Unal Sule S Akarsu Nurten A NA Radosavljevic Mirjana M Chenard Marie-Pierre MP Rialland Fanny F Grain Audrey A Béné Marie-Christine MC Eveillard Marion M Vincent Marie M Guy Julien J Faivre Laurence L Thauvin-Robinet Christel C Thevenon Julien J Myers Kasiani K Fleming Mark D MD Shimamura Akiko A Bottollier-Lemallaz Elodie E Westhof Eric E Lengerke Claudia C Isidor Bertrand B Bahram Seiamak S
The Journal of clinical investigation 20171003 11
Shwachman-Diamond syndrome (SDS) (OMIM #260400) is a rare inherited bone marrow failure syndrome (IBMFS) that is primarily characterized by neutropenia and exocrine pancreatic insufficiency. Seventy-five to ninety percent of patients have compound heterozygous loss-of-function mutations in the Shwachman-Bodian-Diamond syndrome (sbds) gene. Using trio whole-exome sequencing (WES) in an sbds-negative SDS family and candidate gene sequencing in additional SBDS-negative SDS cases or molecularly undi ...[more]