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Article

Fetal pads as a clue to the diagnosis of Pitt-Hopkins syndrome.

American journal of medical genetics. Part A - 1 Jul 2011

Lehalle Daphne, Williams Charles, Siu Victoria Mok, Clayton-Smith Jill

Abstract excerpt

Pitt-Hopkins syndrome (PHS) is characterized by severe mental retardation, characteristic facial features including a wide mouth and intermittent overbreathing. It is due to abnormalities of the TCF4 gene at 18q21.1 and over 50 cases have now been reported in the literature. The clinical features overlap significantly with those of Angelman, Rett, and Mowat-Wilson syndromes. We have observed prominent fetal pads...

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Source

Identifiers

PMID: 21671383
DOI: 10.1002/ajmg.a.34055

Genes

TCF4

Provenance

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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