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Article

Pitt-Hopkins syndrome in two patients and further definition of the phenotype.

Clinical dysmorphology - 1 Apr 2006

Peippo Maarit M, Simola Kalle O J, Valanne Leena K, Larsen Andreo T, Kähkönen Marketta, Auranen Mari P, Ignatius Jaakko

Abstract excerpt

Pitt-Hopkins syndrome is a rare dysmorphic mental retardation syndrome marked by daytime spells of overbreathing interrupted by apnoea. The dysmorphism consists of a large beaked nose, cup-shaped ears with broad helices, a wide mouth, Cupid's bow upper lip, wide and shallow palate and broad or clubbed fingertips. The four patients described so far have been sporadic and represented both sexes. In addition, a pair...

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Source

Identifiers

PMID: 16531728
DOI: 10.1097/01.mcd.0000184973.14775.32

Genes

MECP2

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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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