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Article

An 8.9 year old girl with autism and Gorlin syndrome.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 May 2011

Delbroek Hanne, Steyaert Jean, Legius Eric

Abstract excerpt

We present an 8.9 year old girl diagnosed with autism and macrocrania. Because of macrocrania, hypertelorism and epidermal punctiform lesions in the palm of the hand, Gorlin syndrome was clinically suspected and molecularly confirmed by finding a deletion of 22 base pairs in the PTCH1 gene. The p...

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Source

Identifiers

PMID: 21190878
DOI: 10.1016/j.ejpn.2010.12.001

Genes

PTCH1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-21190878-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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An 8.9 year old girl with autism and Gorlin syndrome.PMID 21190878Read ↗

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Skeletal and cranio-facial signs in Gorlin syndrome from ancient Egypt to the modern age: sphenoid asymmetry in a patient with a novel PTCH1 mutation.Semantic proximity Read ↗

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