Article
Utility and limitations of exome sequencing in the molecular diagnosis of pediatric inherited platelet disorders.
American journal of hematology - 1 Jan 2018
Romasko Edward J, Devkota Batsal, Biswas Sawona, Jayaraman Vijayakumar, Rajagopalan Ramakrishnan, Dulik Matthew C, Thom Christopher S, Choi Jiwon, Jairam Sowmya, Scarano Maria I, Krantz Ian D, Spinner Nancy B, Conlin Laura K, Lambert Michele P
Abstract excerpt
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...
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