Further insights into the spectrum phenotype of TRAPPC9 and CDK5RAP2 genes, segregating independently in a large Tunisian family with intellectual disability and microcephaly-Reference-Cited by-同舟云学术

Further insights into the spectrum phenotype of TRAPPC9 and CDK5RAP2 genes, segregating independently in a large Tunisian family with intellectual disability and microcephaly

Published:2021-12 Issue:12 Volume:64 Page:104373
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Ben Ayed Ikhlas^ORCID,Bouchaala Wafa,Bouzid Amal,Feki Wiem,Souissi Amal,Ben Nsir Sihem,Ben Said Mariem,Sammouda Takwa^ORCID,Majdoub Fatma,kharrat Ines,Kamoun Fatma,Elloumi Ines,Kamoun Hassen^ORCID,Tlili Abdelaziz,Masmoudi Saber,Triki Chahnez

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference30 articles.

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5. CDK5RAP2 functions in centrosome to spindle pole attachment and DNA damage response;Barr;J. Cell Biol.,2010

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1. Expanding the genetic and phenotypic spectrum of TRAPPC9 and MID2-related neurodevelopmental disabilities: report of two novel mutations, 3D-modelling, and molecular docking studies;Journal of Human Genetics;2024-03-11

2. Microcephaly with a disproportionate hippocampal reduction, stem cell loss and neuronal lipid droplet symptoms in Trappc9 KO mice;Neurobiology of Disease;2024-03

3. Microcephaly with a disproportionate hippocampal reduction, stem cell loss and neuronal lipid droplet symptoms inTrappc9KO mice;2023-11-20

5. Defective neurite elongation and branching in Nibp/Trappc9 deficient zebrafish and mice;International Journal of Biological Sciences;2023