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Article

Clinical and molecular diagnosis of Miller-Dieker syndrome.

American journal of human genetics - 1 Mar 1991

Dobyns W B, Curry C J, Hoyme H E, Turlington L, Ledbetter D H

Abstract excerpt

We report results of clinical, cytogenetic, and molecular studies in 27 patients with Miller-Dieker syndrome (MDS) from 25 families. All had severe type I lissencephaly with grossly normal cerebellum and a distinctive facial appearance consisting of prominent forehead, bitemporal hollowing, short nose with upturned nares, protuberant upper lip, thin vermilion border, and small jaw. Several other abnormalities,...

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Identifiers

PMID: 1671808
PMCID: PMC1682996

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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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Clinical and molecular diagnosis of Miller-Dieker syndrome.PMID 1671808Read ↗

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Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3.Semantic proximity Read ↗

Miller-Dieker syndrome with der(17)t(12;17)(q24.33;p13.3)pat presenting with a potential risk of mis-identification as a de novo submicroscopic deletion of 17p13.3.Semantic proximity Read ↗

Neuronal migration genes and a familial translocation t(3;17): Candidate genes implicated in the phenotypeSemantic proximity Read ↗

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Omphalocele in Miller-Dieker syndrome: expanding the phenotype.Semantic proximity Read ↗

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