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Article

Long-term follow-up of four patients with Langer-Giedion syndrome: clinical course and complications.

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

Schinzel Albert, Riegel Mariluce, Baumer Alessandra, Superti-Furga Andrea, Moreira Lilia M A, Santo Layla D E, Schiper Patricia P, Carvalho José Henrique Dantas, Giedion Andres

Abstract excerpt

Long-term observations of individuals with the so-called Langer-Giedion (LGS) or tricho-rhino-phalangeal type II (TRPS2) are scarce. We report here a on follow-up of four LGS individuals, including one first described by Andres Giedion in 1969, and review the sparse publications on adults with this syndrome which comprises ectodermal dysplasia, multiple cone-shaped epiphyses prior to puberty, multiple...

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Source

Identifiers

PMID: 23913778
DOI: 10.1002/ajmg.a.36062

Genes

EXT1
TRPS1

Provenance

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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