Literature DB >> 3265308

Aplasia of the thumbs and great toes as the outstanding feature of Yunis and Varon syndrome. A new entity. A new observation.

R A Pfeiffer1, L Diekmann, H J Stock.   

Abstract

Aplasia of the thumbs and great toes, and aplasia of terminal and dysplasia of middle phalanges with absence of nails were noted in the child of related parents, who died at the age of 3 months from cardiorespiratory insufficiency. This is the 7th case of an (AR) genetic syndrome called after Yunis and Varon.

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Year:  1988        PMID: 3265308

Source DB:  PubMed          Journal:  Ann Genet        ISSN: 0003-3995


  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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