Identification of two novel SH3PXD2B gene mutations in Frank-Ter Haar syndrome by exome sequencing: Case report and review of the literature

Title
Identification of two novel SH3PXD2B gene mutations in Frank-Ter Haar syndrome by exome sequencing: Case report and review of the literature
Authors
Keywords
Frank-Ter Haar syndrome, SH3PXD2B, Whole exome sequencing
Journal
GENE
Volume 628, Issue -, Pages 190-193
Publisher
Elsevier BV
Online
2017-07-08
DOI
10.1016/j.gene.2017.07.011

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