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Article

7 Mb de novo deletion within 8q21 in a patient with distal arthrogryposis type 2B (DA2B).

European journal of medical genetics - 1 Jan 2000

Hofmann Kristin, Becker Jutta, Heller Raoul, Boute Odile, Andrieux Joris, Hoyer Juliane, Ekici Arif B, Reis André, Rauch Anita

Abstract excerpt

We report on a 7 11/12 years old male patient with normal mental development, club feet, ulnar deviation and mild camptodactyly as well as facial dysmorphism including high forehead, small mouth, broad nasal bridge, epicanthus, high palate, brachycephalus, short neck, and dysplastic ears consiste...

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Source

Identifiers

PMID: 21722758
DOI: 10.1016/j.ejmg.2011.06.002

Genes

FABP4
FABP5
HEY1
MYH3
TNNI2
TNNT3
TPM2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Prepared record publication-21722758-2026-09-05.1. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 5 Sept 2026.

Related research

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7 Mb de novo deletion within 8q21 in a patient with distal arthrogryposis type 2B (DA2B).PMID 21722758Read ↗

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