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Article

Paternal inheritance of classic X-linked bilateral periventricular nodular heterotopia.

American journal of medical genetics. Part A - 1 Jun 2013

Kasper Burkhard S, Kurzbuch Katrin, Chang Bernard S, Pauli Elisabeth, Hamer Hajo M, Winkler Jürgen, Hehr Ute

Abstract excerpt

Periventricular nodular heterotopia (PNH) is a developmental disorder of the central nervous system, characterized by heterotopic nodules of gray matter resulting from disturbed neuronal migration. The most common form of bilateral PNH is X-linked dominant inherited, caused by mutations in the Fi...

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Identifiers

PMID: 23636902
DOI: 10.1002/ajmg.a.35917

Genes

FLNA

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23636902-2026-09-04.1. Manifest publication-graph-cohort-2026-09-04.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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