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Article

Precocious sister chromatid separation (PSCS) in Cornelia de Lange syndrome.

American journal of medical genetics. Part A - 15 Sept 2005

Kaur Maninder, DeScipio Cheryl, McCallum Jennifer, Yaeger Dinah, Devoto Marcella, Jackson Laird G, Spinner Nancy B, Krantz Ian D

Abstract excerpt

The Cornelia de Lange syndrome (CdLS) (OMIM# 122470) is a dominantly inherited multisystem developmental disorder. The phenotype consists of characteristic facial features, hirsutism, abnormalities of the upper extremities ranging from subtle changes in the phalanges and metacarpal bones to oligodactyly and phocomelia, gastroesophageal dysfunction, growth retardation, and neurodevelopmental delay. Prevalence is...

Topics

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Cell Cycle Proteins
Chromosome Segregation
De Lange Syndrome
DNA Mutational Analysis
Metaphase

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Identifiers

PMID: 16100726
DOI: 10.1002/ajmg.a.30919
PMCID: PMC2766539

Genes

NIPBL

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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