Literature DB >> 21453629

Frank-Ter Haar Syndrome.

Muhammad Saeed1, Qamar Ali Shair, Shah Masabat Saleem.   

Abstract

Frank-Ter Haar Syndrome (FTHS) is a rare hereditary inherited disorder with many abnormalities. The main clinical features are brachycephaly, wide fontanels, prominent forehead, hypertelorism, prominent eyes, macrocornea with or without glaucoma, full cheeks, small chin, congenital heart defects, kyphoscoliosis, skeletal dysplasia, developmental delay, coccygeal skin folds and flexion deformity of the fingers. This case report describes Frank-Ter Haar syndrome in a 4 months old girl suffering from club foot, dysmorphism, prominent coccyx with skin fold, atrial septal defect, patent ductus asteriosus and megalocornea.

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Year:  2011        PMID: 21453629     DOI: 04.2011/JCPSP.252253

Source DB:  PubMed          Journal:  J Coll Physicians Surg Pak        ISSN: 1022-386X            Impact factor:   0.711


  5 in total

1.  Common dental features and craniofacial development of three siblings with Ter Haar syndrome.

Authors:  K Parker; R Pabla; N Hay; P Ayliffe
Journal:  Eur Arch Paediatr Dent       Date:  2013-10-02

2.  Maxillofacial Changes in Melnick-Needles Syndrome.

Authors:  Leilane Larissa Albuquerque do Nascimento; Monica da Consolação Canuto Salgueiro; Mariana Quintela; Victor Perez Teixeira; Ana Carolina Costa Mota; Camila Haddad Leal de Godoy; Sandra Kalil Bussadori
Journal:  Case Rep Dent       Date:  2016-07-12

3.  Significance of the Tks4 scaffold protein in bone tissue homeostasis.

Authors:  Virag Vas; Tamás Kovács; Szandra Körmendi; Andrea Bródy; Gyöngyi Kudlik; Bálint Szeder; Diána Mező; Dóra Kállai; Kitti Koprivanacz; Balázs L Merő; Metta Dülk; József Tóvári; Péter Vajdovich; Ş Neslihan Şenel; Ilknur Özcan; Zsuzsanna Helyes; Csaba Dobó-Nagy; László Buday
Journal:  Sci Rep       Date:  2019-04-08       Impact factor: 4.379

4.  Analysis of Tks4 Knockout Mice Suggests a Role for Tks4 in Adipose Tissue Homeostasis in the Context of Beigeing.

Authors:  Virag Vas; Tamás Háhner; Gyöngyi Kudlik; Dávid Ernszt; Krisztián Kvell; Dániel Kuti; Krisztina J Kovács; József Tóvári; Mária Trexler; Balázs L Merő; Bálint Szeder; Kitti Koprivanacz; László Buday
Journal:  Cells       Date:  2019-08-05       Impact factor: 6.600

5.  Absence of the Tks4 Scaffold Protein Induces Epithelial-Mesenchymal Transition-Like Changes in Human Colon Cancer Cells.

Authors:  Bálint Szeder; Júlia Tárnoki-Zách; Dóra Lakatos; Virág Vas; Gyöngyi Kudlik; Balázs Merő; Kitti Koprivanacz; László Bányai; Lilla Hámori; Gergely Róna; András Czirók; András Füredi; And László Buday
Journal:  Cells       Date:  2019-10-29       Impact factor: 6.600

  5 in total

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