Literature DB >> 8411078

Congenital heart malformation in Yunis-Varón syndrome.

L C Adès1, L L Morris, M Richardson, C Pearson, E A Haan.   

Abstract

We describe a male infant with Yunis-Varón syndrome who has tetralogy of Fallot. This appears to be the first case of Yunis-Varón syndrome associated with congenital heart malformation.

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Year:  1993        PMID： 8411078      PMCID： PMC1016540          DOI： 10.1136/jmg.30.9.788

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


  5 in total

1.  Precocious type of osteodysplasia. A new autosomal recessive form.

Authors:  K Kozlowski; V Mayne; D M Danks
Journal:  Acta Radiol Diagn (Stockh)       Date:  1973-03

2.  Further delineation of the Yunis-Varon syndrome.

Authors:  R C Hennekam; C Vermeulen-Meiners
Journal:  J Med Genet       Date:  1989-01       Impact factor: 6.318

3.  Brief clinical report: the syndrome of Yunis and Varón--report of a further case.

Authors:  H E Hughes; M W Partington
Journal:  Am J Med Genet       Date:  1983-03

4.  Syndromes and situations associated with congenital clavicular hypoplasia or agenesis.

Authors:  B D Hall
Journal:  Prog Clin Biol Res       Date:  1982

5.  Cleidocranial dysostosis, severe micrognathism, bilateral absence of thumbs and first metatarsal bone, and distal aphalangia: a new genetic syndrome.

Authors:  E Yunis; H Varón
Journal:  Am J Dis Child       Date:  1980-07
  5 in total
  2 in total

1.  Yunis Varon syndrome.

Authors:  M L Kulkarni; H N Vani; K Nagendra; T K Mahesh; Anand Kumar; Suja Haneef; Zaheeruddin Mohammed; Preethi M Kulkarni
Journal:  Indian J Pediatr       Date:  2006-04       Impact factor: 1.967

2.  Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase.

Authors:  Philippe M Campeau; Guy M Lenk; James T Lu; Yangjin Bae; Lindsay Burrage; Peter Turnpenny; Jorge Román Corona-Rivera; Lucia Morandi; Marina Mora; Heiko Reutter; Anneke T Vulto-van Silfhout; Laurence Faivre; Eric Haan; Richard A Gibbs; Miriam H Meisler; Brendan H Lee
Journal:  Am J Hum Genet       Date:  2013-04-25       Impact factor: 11.025
  2 in total

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