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New mutation of the PTCH gene in nevoid basal-cell carcinoma syndrome with West syndrome.

Pediatric neurology - 1 Nov 2007

Tachi Nobutada, Fujii Katsunori, Kimura Mitsugu, Seki Kouhei, Hirakai Masahisa, Miyashita Toshiyuki

Abstract excerpt

Neurologic involvement in nevoid basal-cell carcinoma syndrome includes intracranial calcification, congenital hydrocephalus, intracranial neoplasms, and mental retardation. A few cases of epilepsy with nevoid basal-cell carcinoma syndrome were reported. We report on a patient with nevoid basal-cell carcinoma syndrome and West syndrome. The patient had a heterozygous mutation (insertion of TGGC) in the PTCH gene....

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Identifiers

PMID: 17950424
DOI: 10.1016/j.pediatrneurol.2007.06.022

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

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