Defining the phenotypical spectrum associated with variants in TUBB2A

BACKGROUND: Variants in genes belonging to the tubulin superfamily account for a heterogeneous spectrum of brain malformations referred to as tubulinopathies. Variants in TUBB2A have been reported in 10 patients with a broad spectrum of brain imaging features, ranging from a normal cortex to polymic...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Udgivet i:J Med Genet
Main Authors: Brock, Stefanie, Vanderhasselt, Tim, Vermaning, Sietske, Keymolen, Kathelijn, Régal, Luc, Romaniello, Romina, Wieczorek, Dagmar, Storm, Tim Matthias, Schaeferhoff, Karin, Hehr, Ute, Kuechler, Alma, Krägeloh-Mann, Ingeborg, Haack, Tobias B, Kasteleijn, Esmee, Schot, Rachel, Mancini, Grazia Maria Simonetta, Webster, Richard, Mohammad, Shekeeb, Leventer, Richard J, Mirzaa, Ghayda, Dobyns, William B, Bahi-Buisson, Nadia, Meuwissen, Marije, Jansen, Anna C, Stouffs, Katrien
Format: Artigo
Sprog:Inglês
Udgivet: BMJ Publishing Group 2021
Fag:
Genotype-Phenotype Correlations
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7803914/
https://ncbi.nlm.nih.gov/pubmed/32571897
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2019-106740
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker