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

Gene - 10 Sept 2017

Zrhidri Abdelali, Jaouad Imane Cherkaoui, Lyahyai Jaber, Raymond Laure, Egéa Grégory, Taoudi Mohamed, El Mouatassim Said, Sefiani Abdelaziz

Abstract excerpt

BACKGROUND: Frank-Ter Haar syndrome (FTHS) is an autosomal-recessive disorder characterized by skeletal, cardio-vascular, and eye abnormalities, such as increased intraocular pressure, prominent eyes, and hypertelorism. The most common underlying genetic defect in Frank-Ter Haar syndrome appears to be due to mutations in the SH3PXD2B gene on chromosome 5q35.1. Until now, only six mutations in SH3PXD2B gene have...

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PMID: 28694206
DOI: 10.1016/j.gene.2017.07.011

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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