Literature DB >> 15971261

van den Ende-Gupta syndrome of blepharophimosis, arachnodactyly, and congenital contractures.

Dania Guerra1, Otto Sanchez, Antonio Richieri-Costa.   

Abstract

Here, we report on a Venezuelan child with manifestations of van den Ende-Gupta syndrome, including blepharophimosis, arachnodactyly, and congenital contractures. We also review cases from the literature. (c) 2005 Wiley-Liss, Inc.

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Year:  2005        PMID： 15971261     DOI： 10.1002/ajmg.a.30665

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


  5 in total

1.  Unmasking of a Recessive SCARF2 Mutation by a 22q11.12 de novo Deletion in a Patient with Van den Ende-Gupta Syndrome.

Authors:  M F Bedeschi; L Colombo; F Mari; K Hofmann; A Rauch; B Gentilin; A Renieri; D Clerici
Journal:  Mol Syndromol       Date:  2011-05-18

2.  Mutations in SCARF2 are responsible for Van Den Ende-Gupta syndrome.

Authors:  Natascia Anastasio; Tawfeg Ben-Omran; Ahmad Teebi; Kevin C H Ha; Emilie Lalonde; Rehab Ali; Mariam Almureikhi; Vazken M Der Kaloustian; Junhui Liu; David S Rosenblatt; Jacek Majewski; Loydie A Jerome-Majewska
Journal:  Am J Hum Genet       Date:  2010-10-08       Impact factor: 11.025

3.  Scavenger receptor class F member 2 (SCARF2) as a novel therapeutic target in glioblastoma.

Authors:  Chaeyeong Kim; Gyeyeong Kong; Hyunji Lee; Quangdon Tran; Thuy-Trang T Vo; So Hee Kwon; Jisoo Park; Seon-Hwan Kim; Jongsun Park
Journal:  Toxicol Res       Date:  2022-02-25

4.  Sclerocornea in a patient with van den Ende-Gupta syndrome homozygous for a SCARF2 microdeletion.

Authors:  Michele P Migliavacca; Nara L M Sobreira; Graziela P M Antonialli; Mariana M Oliveira; Maria Isabel S A Melaragno; Ingele Casteels; Thomy de Ravel; Decio Brunoni; David Valle; Ana Beatriz A Perez
Journal:  Am J Med Genet A       Date:  2014-01-29       Impact factor: 2.802

5.  Inclusion of joint laxity, recurrent patellar dislocation, and short distal ulnae as a feature of Van Den Ende-Gupta syndrome: a case report.

Authors:  Mohammad M Al-Qattan; Doaa F Andejani; Nadia A Sakati; Khushnooda Ramzan; Faiqa Imtiaz
Journal:  BMC Med Genet       Date:  2018-01-30       Impact factor: 2.103
  5 in total

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