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 microcephalyFile in questo prodotto:
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