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Article

Schizencephaly in LEOPARD syndrome.

Pediatric neurology - 1 Jul 2009

Liang Jao-Shwann, Chien Yin-Hsiu, Hwu Wuh-Liang, Yeh Shu-Jen, Peng Shinn-Forng

Abstract excerpt

We report on a 2-year-old boy with facial dysmorphism, multiple lentigines, and hypertrophic cardiomyopathy. Mutation analyses of the patient and his mother revealed a Y279G mutation in exon 7 of the PTPN11 gene. The presence of LEOPARD syndrome was confirmed by a genetic study and clinical phenotypes. Since age 18 months, the patient had manifested frequent seizures that were poorly controlled by multiple...

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Source

Identifiers

PMID: 19520282
DOI: 10.1016/j.pediatrneurol.2009.02.015

Genes

PTPN11

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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