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Article

Comprehensive mutational analysis of a cohort of Swedish Cornelia de Lange syndrome patients.

European journal of human genetics : EJHG - 1 Feb 2007

Schoumans Jacqueline, Wincent Josephine, Barbaro Michela, Djureinovic Tatjana, Maguire Paula, Forsberg Lena, Staaf Johan, Thuresson Ann Charlotte, Borg Ake, Nordgren Ann, Malm Gunilla, Anderlid Britt Marie

Abstract excerpt

Cornelia de Lange syndrome (CdLS; OMIM 122470) is a rare multiple congenital anomaly/mental retardation syndrome characterized by distinctive dysmorphic facial features, severe growth and developmental delay and abnormalities of the upper limbs. About 50% of CdLS patients have been found to have heterozygous mutations in the NIPBL gene and a few cases were recently found to be caused by mutations in the X-linked...

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Source

Identifiers

PMID: 17106445
DOI: 10.1038/sj.ejhg.5201737

Genes

NIPBL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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