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Article

Smith-Lemli-Opitz syndrome: the changing phenotype with age.

Genetic counseling (Geneva, Switzerland) - 1 Jan 1992

de Die-Smulders C, Fryns J P

Abstract excerpt

In this report we present follow up data of two brothers with Smith-Lemli-Opitz syndrome. The changes with ageing are striking and few of the typical SLO traits are still present, which makes it extremely difficult to make the diagnosis Smith-Lemli-Opitz syndrome at adult age.

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Identifiers

PMID: 1642814

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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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