Tubulinopathies are a heterogeneous group of conditions with a wide spectrum of clinical severity resulting from variants in genes of the tubulin superfamily. Variants in TUBG1 have been described in three patients with posterior predominant pachygyria and microcephaly

Tubulinopathies continued: refining the phenotypic spectrum associated with variants in TUBG1 / Brock S; Stouffs K; Scalais E; D'Hooghe M; Keymolen K; Guerrini R; Dobyns WB; Di Donato N; Jansen AC. - In: EUROPEAN JOURNAL OF HUMAN GENETICS. - ISSN 1018-4813. - STAMPA. - (2018), pp. 1132-1142. [10.1038/s41431-018-0146-y]

Tubulinopathies continued: refining the phenotypic spectrum associated with variants in TUBG1

Guerrini R;
2018

Abstract

Tubulinopathies are a heterogeneous group of conditions with a wide spectrum of clinical severity resulting from variants in genes of the tubulin superfamily. Variants in TUBG1 have been described in three patients with posterior predominant pachygyria and microcephaly
2018
1132
1142
Brock S; Stouffs K; Scalais E; D'Hooghe M; Keymolen K; Guerrini R; Dobyns WB; Di Donato N; Jansen AC
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Utilizza questo identificatore per citare o creare un link a questa risorsa: https://hdl.handle.net/2158/1135245
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