Literature DB >> 15876600

Yunis-Varon syndrome.

Sameer Bhatia1, R G Holla.   

Abstract

Yunis-Varon syndrome is a rare, autosomal recessive syndrome characterized by growth retardation, defective growth of the cranial bones along with complete or partial absence of the clavicles (cleidocranial dysplasia), characteristic facial features, and/or abnormalities of the fingers and/or toes.

Entities:  

Mesh:

Year:  2005        PMID: 15876600

Source DB:  PubMed          Journal:  Indian Pediatr        ISSN: 0019-6061            Impact factor:   1.411


  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

北京卡尤迪生物科技股份有限公司 © 2022-2023.