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Article

Pitt-Hopkins syndrome: phenotypic and genotypic description of four unrelated patients and structural analysis of corresponding missense mutations.

Neurogenetics - 1 Jul 2021

Zhao Tingting, Genchev Georgi Z, Wu Shengnan, Yu Guangjun, Lu Hui, Feng Jincai

Abstract excerpt

Pitt-Hopkins syndrome is an underdiagnosed neurodevelopmental disorder which is characterized by specific facial features, early-onset developmental delay, and moderate to severe intellectual disability. The genetic cause, a deficiency of the TCF4 gene, has been established; however, the underlying pathological mechanisms of this disease are still unclear. Herein, we report four unrelated children with different...

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PMID: 34128147
DOI: 10.1007/s10048-021-00651-8

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