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Article

Callosal agenesis, iris coloboma, and megacolon in a Brazilian boy with Rubinstein-Taybi syndrome.

American journal of medical genetics - 1 Aug 1992

Guion-Almeida M L, Richieri-Costa A

Abstract excerpt

We report on a Brazilian boy with Rubinstein-Taybi syndrome (RTS) with callosal agenesis, iris coloboma, and megacolon. To our knowledge, callosal agenesis, iris coloboma, and megacolon are unusual signs within the clinical spectrum of RTS, and the present association is apparently underscribed.

Topics

Agenesis of Corpus Callosum
Child
Coloboma
Corpus Callosum
Hirschsprung Disease
Humans
Iris
Male
Phenotype
Radiography
Rubinstein-Taybi Syndrome

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 1415341
DOI: 10.1002/ajmg.1320430604

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1415341-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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