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Article

263.4 kb deletion within the TCF4 gene consistent with Pitt-Hopkins syndrome, inherited from a mosaic parent with normal phenotype.

European journal of medical genetics - 1 Jun 2013

Kousoulidou Ludmila, Tanteles George, Moutafi Maria, Sismani Carolina, Patsalis Philippos C, Anastasiadou Violetta

Abstract excerpt

Pitt-Hopkins syndrome (PTHS) is a rare neurodevelopmental genetic disorder, remaining under-diagnosed due to similarities with other known genetic syndromes. It is mainly characterized by severe intellectual disability, overbreathing, a typical facial gestalt, tendency to epilepsy and is caused by TCF4 haploinsufficiency. We report on a 14-year old boy, born to healthy non-consanguineous parents, with a PTHS...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23528641
DOI: 10.1016/j.ejmg.2013.03.005

Genes

TCF4

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263.4 kb deletion within the TCF4 gene consistent with Pitt-Hopkins syndrome, inherited from a mosaic parent with normal phenotype.PMID 23528641Read ↗

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A novel variant in the 3' UTR of the TCF4 gene likely causes Pitt-Hopkins syndrome: a case report.Semantic proximity Read ↗

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Further delineation of Pitt–Hopkins syndrome: phenotypic and genotypic description of 16 novel patientsSemantic proximity Read ↗

[Genetic analysis of a child with Pitt-Hopkins syndrome due to a novel variant of TCF4 gene derived from low percentage maternal mosaicism].Semantic proximity Read ↗

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