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
; 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 
Zusammenfassung
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 polymicrogyria, while one patient has been reported with progressive atrophy of the cerebellar vermis. ...
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