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Article

Variability of the Brachmann-de Lange syndrome.

American journal of medical genetics - 15 Nov 1993

Selicorni A, Lalatta F, Livini E, Briscioli V, Piguzzi T, Bagozzi D C, Mastroiacovo P, Zampino G, Gaeta G, Pugliese A

Abstract excerpt

Brachmann-de Lange syndrome (BDLS) is a relatively common multiple congenital anomaly/mental retardation syndrome, whose cause is unknown. The clinical variability of this condition is well-known. Recently some reports suggested the possible existence of a mild BDLS phenotype. We report on 30 patients in whom a diagnosis of BDLS was made or strongly suspected in 12 different Italian hospitals. Based on clinical...

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Identifiers

PMID: 8291540
DOI: 10.1002/ajmg.1320470708

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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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