Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A Malay boy with the Cornelia de Lange syndrome: clinical and molecular findings.

Singapore medical journal - 1 Aug 2006

Bhuiyan Z A, Zilfalil B A, Hennekam R C M

Abstract excerpt

The Cornelia de Lange syndrome is a multiple congenital anomaly syndrome characterised by dysmorphic facial features, hirsutism, severe growth and developmental delays, and malformed upper limbs. The prevalence is estimated to be one per 10,000. Recently, several independent groups proved that Cornelia de Lange syndrome is caused by mutations in the NIPBL gene, the human homologue of the Drosophila Nipped-B gene....

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Abnormalities, Multiple
Share to Child
Share to De Lange Syndrome

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to NIPBL gene

Share to Malaysia

Share to Mutation

Share to Polymorphism, Genetic

Source

Identifiers

PMID: 16865217

Genes

NIPBL

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A Malay boy with the Cornelia de Lange syndrome: clinical and molecular findings.PMID 16865217Read ↗

Clinical and genetic analysis of Korean patients with Cornelia de Lange syndrome: two novel NIPBL mutations.Semantic proximity Read ↗

NIPBL gene responsible for Cornelia de Lange syndrome, a severe developmental disorder.Semantic proximity Read ↗

A series of 38 novel germline and somatic mutations of NIPBL in Cornelia de Lange syndrome.Semantic proximity Read ↗

An atypical facial appearance and growth pattern in a child with Cornelia de Lange Syndrome: an intragenic deletion predicting loss of the N-terminal region of NIPBL.Semantic proximity Read ↗

Cornelia de Lange syndrome: What should a dermatologist know?Semantic proximity Read ↗

A report of 2 cases of Cornelia de Lange syndrome (CdLS) and an analysis of clinical and genetic characteristics in a Chinese CdLS cohort.Semantic proximity Read ↗

[Analysis of NIPBL gene mutation in a patient with Cornelia de Lange syndrome].Semantic proximity Read ↗

Cornelia de Lange syndrome.Semantic proximity Read ↗

A novel de novo mutation of the Nipped-B-like gene in an isolated Chinese patient with Cornelia de Lange syndrome.Semantic proximity Read ↗

Clinical and genetic study of 20 patients from China with Cornelia de Lange syndrome.Semantic proximity Read ↗

[NIPBL gene mutations in two children with Cornelia de Lange syndrome].Semantic proximity Read ↗

Clinical and molecular analysis in a cohort of Chinese children with Cornelia de Lange syndrome.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.