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Article

Hidden mutations in Cornelia de Lange syndrome limitations of sanger sequencing in molecular diagnostics.

Human mutation - 1 Jan 2015

Braunholz Diana, Obieglo Carolin, Parenti Ilaria, Pozojevic Jelena, Eckhold Juliane, Reiz Benedikt, Braenne Ingrid, Wendt Kerstin S, Watrin Erwan, Vodopiutz Julia, Rieder Harald, Gillessen-Kaesbach Gabriele, Kaiser Frank J

Abstract excerpt

Cornelia de Lange syndrome (CdLS) is a well-characterized developmental disorder. The genetic cause of CdLS is a mutation in one of five associated genes (NIPBL, SMC1A, SMC3, RAD21, and HDAC8) accounting for about 70% of cases. To improve our current molecular diagnostic and to analyze some of CdLS candidate genes, we developed and established a gene panel approach. Because recent data indicate a high frequency...

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Source

Identifiers

PMID: 25196272
DOI: 10.1002/humu.22685

Genes

NIPBL
HDAC8
RAD21
SMC3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Hidden mutations in Cornelia de Lange syndrome limitations of sanger sequencing in molecular diagnostics.PMID 25196272Read ↗

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