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Article

Brain morphology in children with nevoid basal cell carcinoma syndrome.

American journal of medical genetics. Part A - 1 Apr 2017

Shiohama Tadashi, Fujii Katsunori, Miyashita Toshiyuki, Mizuochi Hiromi, Uchikawa Hideki, Shimojo Naoki

Abstract excerpt

Brain morphology is tightly regulated by diverse signaling pathways. Hedgehog signaling is a candidate pathway considered responsible for regulating brain morphology. Nevoid basal cell carcinoma syndrome (NBCCS), caused by a PTCH1 mutation in the hedgehog signaling pathway, occasionally exhibits macrocephaly and medulloblastoma. Although cerebellar enlargement occurs in ptch1 heterozygous-deficient mice, its...

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Source

Identifiers

PMID: 28328116
DOI: 10.1002/ajmg.a.38115

Genes

PTCH1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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