Access the full text.
Sign up today, get DeepDyve free for 14 days.
References for this paper are not available at this time. We will be adding them shortly, thank you for your patience.
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)
Clinical Dysmorphology – Wolters Kluwer Health
Published: Jan 17, 2022
Read and print from thousands of top scholarly journals.
Already have an account? Log in
Bookmark this article. You can see your Bookmarks on your DeepDyve Library.
To save an article, log in first, or sign up for a DeepDyve account if you don’t already have one.
Copy and paste the desired citation format or use the link below to download a file formatted for EndNote
Access the full text.
Sign up today, get DeepDyve free for 14 days.
All DeepDyve websites use cookies to improve your online experience. They were placed on your computer when you launched this website. You can change your cookie settings through your browser.