Novel SH3PXD2B variant identified by whole-exome sequencing in a Turkish newborn with Frank–Ter Haar Syndrome-Reference-Cited by-同舟云学术

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Novel SH3PXD2B variant identified by whole-exome sequencing in a Turkish newborn with Frank–Ter Haar Syndrome

Published:2021-09-17 Issue:1 Volume:31 Page:45-49
ISSN:0962-8827
Container-title:Clinical Dysmorphology
language:en
Short-container-title:

Author:

Türkyilmaz Ayberk,Sager Safiye Gunes,Topcu Bahtisen,Kaplan Aysin Tuba,Günbey Hediye Pinar,Akin Yasemin

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Genetics(clinical),General Medicine,Pathology and Forensic Medicine,Anatomy,Pediatrics, Perinatology, and Child Health

Reference15 articles.

1. Frank-ter Haar syndrome associated with sagittal craniosynostosis and raised intracranial pressure.;Bendon;Bmc Med Genet,2012

2. The novel adaptor protein Tks4 (SH3PXD2B) is required for functional podosome formation.;Buschman;Mol Biol Cell,2009

3. Ophthalmic findings in Frank-ter Haar syndrome: report of a sibling pair.;Chang;J AAPOS,2017

4. Functional analysis of a hypomorphic allele shows that MMP14 catalytic activity is the prime determinant of the Winchester syndrome phenotype.;de Vos;Hum Mol Genet,2018

5. Multicentric osteolytic syndromes represent a phenotypic spectrum defined by defective collagen remodeling.;de Vos;Am J Med Genet A,2019

Cited by 3 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Anesthesia and Airway Management in a Child with Frank Ter Haar Syndrome Suspected Difficult Airway Undergoing Cardiac Surgery: A Case Report;Anesthesiology and Pain Medicine;2024-09-14

2. A Novel Cell-Based Model for a Rare Disease: The Tks4-KO Human Embryonic Stem Cell Line as a Frank-Ter Haar Syndrome Model System;International Journal of Molecular Sciences;2022-08-08

3. The Role of the Disrupted Podosome Adaptor Protein (SH3PXD2B) in Frank–Ter Haar Syndrome;Genes;2022-01-27

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