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Article

Proposal of a clinical score for the molecular test for Pitt-Hopkins syndrome.

American journal of medical genetics. Part A - 1 Jul 2012

Marangi Giuseppe, Ricciardi Stefania, Orteschi Daniela, Tenconi Romano, Monica Matteo Della, Scarano Gioacchino, Battaglia Domenica, Lettori Donatella, Vasco Gessica, Zollino Marcella

Abstract excerpt

Pitt-Hopkins syndrome (PTHS) is an emerging condition characterized by severe intellectual disability (ID), typical facial gestalt, and additional features, such as breathing abnormalities. Because of the overlapping phenotype of severe ID with absent speech, epilepsy, microcephaly, large mouth, and constipation, differential diagnosis of PTHS with respect to Angelman, Rett, and Mowat-Wilson syndromes represents...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22678594
DOI: 10.1002/ajmg.a.35419

Genes

TCF4

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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