Ontology highlight
ABSTRACT:
SUBMITTER: Romasko EJ
PROVIDER: S-EPMC6366456 | biostudies-literature | 2018 Jan
REPOSITORIES: biostudies-literature
Romasko Edward J EJ Devkota Batsal B Biswas Sawona S Jayaraman Vijayakumar V Rajagopalan Ramakrishnan R Dulik Matthew C MC Thom Christopher S CS Choi Jiwon J Jairam Sowmya S Scarano Maria I MI Krantz Ian D ID Spinner Nancy B NB Conlin Laura K LK Lambert Michele P MP
American journal of hematology 20171020 1
Inherited platelet disorders (IPD) are a heterogeneous group of rare disorders that affect platelet number and function and often predispose to other significant medical complications. In spite of the identification of over 50 IPD disease-associated genes, a molecular diagnosis is only identified in a minority (10%) of affected patients without a clinically suspected etiology. We studied a cohort of 21 pediatric patients with suspected IPDs by exome sequencing (ES) to: (1) examine the performanc ...[more]