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Article

Clinical identification of a human equivalent to the short ear (se) murine phenotype.

Annales de genetique - 1 Jan 1994

Lacombe D, Toutain A, Gorlin R J, Oley C A, Battin J

Abstract excerpt

Mutations in the BMP-5 gene at the mouse short-ear locus alter size, shape, and number of many different skeletal elements, and greatly reduce the size of the external ear. The alterations in short-ear mice are confined to particular skeletal features and a human equivalent is not known. We report on 5 patients whose features fit into the clinical criteria of the EPS (ear, patella, short stature) syndrome...

Topics

Animals
Body Height
Child, Preschool
Chromosome Mapping
Cryptorchidism
Ear, External
Female
Humans
Infant
Male
Mice
Micrognathism

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Patella

Phenotype

Syndrome

Source

Identifiers

PMID: 7710253

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7710253-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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