Literature DB >> 8558561

A new autosomal recessive syndrome of characteristic facies, joint contractures, skeletal abnormalities, and normal development: second report with further clinical delineation.

A Gupta1, C M Hall, Y F Ransley, V A Murday.   

Abstract

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Mesh：

Year:  1995        PMID： 8558561      PMCID： PMC1051707          DOI： 10.1136/jmg.32.10.809

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  3 in total

Review 1.  Expanded spectrum of findings in Marden-Walker syndrome.

Authors:  G P Giacoia; R Pineda
Journal:  Am J Med Genet       Date:  1990-08

2.  Marden-Walker-like syndrome without psychomotor retardation: report of a Brazilian girl born to consanguineous parents.

Authors:  J J van den Ende; Y van Bever; E S Rodini; A Richieri-Costa
Journal:  Am J Med Genet       Date:  1992-02-15

Review 3.  Marden-Walker syndrome: a case report and a critical review of the literature.

Authors:  M S Williams; K D Josephson; D S Wargowski
Journal:  Clin Dysmorphol       Date:  1993-07       Impact factor: 0.816
  3 in total
  4 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.  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

4.  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
  4 in total

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