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Article

Clinical manifestations of the deletion of Down syndrome critical region including DYRK1A and KCNJ6.

American journal of medical genetics. Part A - 1 Jan 2011

Yamamoto Toshiyuki, Shimojima Keiko, Nishizawa Tsutomu, Matsuo Mari, Ito Masahiro, Imai Katsumi

Abstract excerpt

A relatively small region of human chromosome 21 (Hsa21) is considered to play a major role in Down syndrome (DS) phenotypes, and the concept of a Down syndrome critical region (DSCR) has been proposed. The goal of the phenotype-genotype correlation study is to discover which genes are responsible for each DS phenotype. Loss of the genomic copy numbers of Hsa21 can give us important suggestion to understand the...

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Source

Identifiers

PMID: 21204217
DOI: 10.1002/ajmg.a.33735

Genes

KCNJ6

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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Clinical manifestations of the deletion of Down syndrome critical region including DYRK1A and KCNJ6.PMID 21204217Read ↗

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