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Various haploinsufficiency mechanisms in Pitt-Hopkins syndrome

Sparber, P; Filatova, A; Anisimova, I; Markova, T; Voinova, V; Chuhrova, A; Tabakov, V; Skoblov, M

Sparber, P (corresponding author), Res Ctr Med Genet, Moskvorechie St 1, Moscow, Russia.

EUROPEAN JOURNAL OF MEDICAL GENETICS, 2020; 63 (12):

Abstract

Pitt-Hopkins syndrome is a rare neurodevelopment disorder caused by haploinsufficiency of the transcription factor 4 (TCF4). The main clinical symptom......

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