Literature DB >> 25899944

Compound heterozygote CDK5RAP2 mutations in a Guatemalan/Honduran child with autosomal recessive primary microcephaly, failure to thrive and speech delay.

Mindy H Li1,2, Kelly Arndt3, Soma Das3, Elliott M Weiss2,4,5, Yaning Wu1, Kriti Gwal6, Karuna V Shekdar6, Elaine H Zackai1,2.   

Abstract

Entities:  

Keywords:  CDK5RAP2; autosomal recessive primary microcephaly (MCPH); developmental delay; failure to thrive; microcephaly; speech delay

Mesh：

Substances：

Year:  2015        PMID： 25899944     DOI： 10.1002/ajmg.a.36975

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


× No keyword cloud information.
  2 in total

1.  Exome sequencing identifies recessive CDK5RAP2 variants in patients with isolated agenesis of corpus callosum.

Authors:  Loubna Jouan; Bouchra Ouled Amar Bencheikh; Hussein Daoud; Alexandre Dionne-Laporte; Sylvia Dobrzeniecka; Dan Spiegelman; Daniel Rochefort; Pascale Hince; Anna Szuto; Maryse Lassonde; Marine Barbelanne; William Y Tsang; Patrick A Dion; Hugo Théoret; Guy A Rouleau
Journal:  Eur J Hum Genet       Date:  2015-07-22       Impact factor: 4.246

2.  Activation of an exonic splice-donor site in exon 30 of CDK5RAP2 in a patient with severe microcephaly and pigmentary abnormalities.

Authors:  Alistair T Pagnamenta; Malcolm F Howard; Samantha J L Knight; David A Keays; Gerardine Quaghebeur; Jenny C Taylor; Usha Kini
Journal:  Clin Case Rep       Date:  2016-08-23
  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.