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Article

Walker-Warburg syndrome variant.

Computerized medical imaging and graphics : the official journal of the Computerized Medical Imaging Society - 1 Jan 2000

Pabuşçu Yüksel, Bulakbasi Nail, Kocaoğlu Murat, Uçöz Taner, Bulakbaşý Nail

Abstract excerpt

A Turkish patient with cobblestone lissencephaly and eye involvement without characteristic muscular changes for congenital muscular dystrophy died at the age of 3 months presented with neonatal apneic periods and generalized seizures. Serum creatine kinase level, electromyography, chromosome analysis and blood biochemistry were normal. Unilateral microphthalmia, retinal dysplasia and internal strabismus were the...

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Identifiers

PMID: 12453509
DOI: 10.1016/s0895-6111(02)00026-5

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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