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

Novel SH3PXD2B variant identified by whole-exome sequencing in a Turkish newborn with Frank–Ter... Short case report 45 Novel SH3PXD2B variant identified by whole-exome sequencing in a Turkish newborn with Frank–Ter Haar Syndrome a b c Ayberk Türkyılmaz , Safiye Gunes Sager , Bahtisen Topcu , d e f Aysin Tuba Kaplan , Hediye Pınar Günbey and Yasemin Akın Clinical Dysmorphology 2022, 31:45–49 Correspondence to Ayberk Turkyilmaz, MD, Department of Medical Genetics, Karadeniz Technical University Faculty of Medicine, Ortahisar Trabzon Department of Medical Genetics, Karadeniz Technical University Faculty 61100, Turkey b c of Medicine, Trabzon, Department of Pediatric Neurology, Department Tel: +90 5058120334; e-mail: ayberkturkyilmaz@gmail.com d e of Pediatric Neonatology, Department of Ophthalmology, Department of Radiology and Department of Pediatrics, Kartal Dr. Lutfi Kirdar City Hospital, Received 28 July 2021 Accepted 25 August 2021 Istanbul, Turkey List of key features were detected in the homozygous Sh3pxd2b-mutant Prominent forehead mice created by Mao et al., (2009). They showed that Hypertelorism Sh3pxd2b encodes the podosomal-adaptor protein, which Prominent eyes is responsible for postnatal growth and the development Congenital glaucoma of craniofacial structures, ocular iridocorneal angle and mesenchymal tissues such as white adipose tissue (Mao et al., 2009). Sh3pxd2b encodes actin-rich membrane pro- Background trusions known as invadopodia and podosomes, which are Frank–Ter Haar Syndrome (FTHS) http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Clinical Dysmorphology Wolters Kluwer Health

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

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Publisher
Wolters Kluwer Health
Copyright
Copyright © 2021 Wolters Kluwer Health, Inc. All rights reserved.
ISSN
0962-8827
eISSN
1473-5717
DOI
10.1097/mcd.0000000000000389
Publisher site
See Article on Publisher Site

Abstract

Short case report 45 Novel SH3PXD2B variant identified by whole-exome sequencing in a Turkish newborn with Frank–Ter Haar Syndrome a b c Ayberk Türkyılmaz , Safiye Gunes Sager , Bahtisen Topcu , d e f Aysin Tuba Kaplan , Hediye Pınar Günbey and Yasemin Akın Clinical Dysmorphology 2022, 31:45–49 Correspondence to Ayberk Turkyilmaz, MD, Department of Medical Genetics, Karadeniz Technical University Faculty of Medicine, Ortahisar Trabzon Department of Medical Genetics, Karadeniz Technical University Faculty 61100, Turkey b c of Medicine, Trabzon, Department of Pediatric Neurology, Department Tel: +90 5058120334; e-mail: ayberkturkyilmaz@gmail.com d e of Pediatric Neonatology, Department of Ophthalmology, Department of Radiology and Department of Pediatrics, Kartal Dr. Lutfi Kirdar City Hospital, Received 28 July 2021 Accepted 25 August 2021 Istanbul, Turkey List of key features were detected in the homozygous Sh3pxd2b-mutant Prominent forehead mice created by Mao et al., (2009). They showed that Hypertelorism Sh3pxd2b encodes the podosomal-adaptor protein, which Prominent eyes is responsible for postnatal growth and the development Congenital glaucoma of craniofacial structures, ocular iridocorneal angle and mesenchymal tissues such as white adipose tissue (Mao et al., 2009). Sh3pxd2b encodes actin-rich membrane pro- Background trusions known as invadopodia and podosomes, which are Frank–Ter Haar Syndrome (FTHS)

Journal

Clinical DysmorphologyWolters Kluwer Health

Published: Jan 17, 2022

References