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Article

The cerebral cortex malformation in thanatophoric dysplasia: neuropathology and pathogenesis.

Acta neuropathologica - 1 Sept 2005

Hevner Robert F

Abstract excerpt

Thanatophoric dysplasia (TD) is a relatively common, fatal form of chondrodysplastic dwarfism in which the cerebral cortex displays a unique and complex malformation. The malformation is characterized by a combination of abnormalities, which affect the temporal lobe most severely. Salient features include temporal lobe enlargement, deep transverse sulci across the inferomedial temporal surface, and hippocampal...

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Source

Identifiers

PMID: 16133544
DOI: 10.1007/s00401-005-1059-8

Genes

FGFR3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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