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Article

A multiplex human syndrome implicates a key role for intestinal cell kinase in development of central nervous, skeletal, and endocrine systems.

American journal of human genetics - 1 Feb 2009

Lahiry Piya, Wang Jian, Robinson John F, Turowec Jacob P, Litchfield David W, Lanktree Matthew B, Gloor Gregory B, Puffenberger Erik G, Strauss Kevin A, Martens Mildred B, Ramsay David A, Rupar C Anthony, Siu Victoria, Hegele Robert A

Abstract excerpt

Six infants in an Old Order Amish pedigree were observed to be affected with endocrine-cerebro-osteodysplasia (ECO). ECO is a previously unidentified neonatal lethal recessive disorder with multiple anomalies involving the endocrine, cerebral, and skeletal systems. Autozygosity mapping and sequen...

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Identifiers

PMID: 19185282
DOI: 10.1016/j.ajhg.2008.12.017
PMCID: PMC2668000

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19185282-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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