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

Central nervous system abnormalities in two cases with neonatal Marfan syndrome with novel mutations in the fibrillin-1 gene.

American journal of medical genetics. Part A - 1 Sept 2010

Barnett Christopher P, Wilson Gregory J, Chiasson David A, Gross Gil J, Hinek Aleksander, Hawkins Cynthia, Chitayat David

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Autopsy
Share to Central Nervous System
Share to Fatal Outcome
Share to Fibrillin-1

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

Share to Fibrillins

Share to Infant

Share to Marfan Syndrome

Share to Microfilament Proteins

Source

Identifiers

PMID: 20803651
DOI: 10.1002/ajmg.a.33406

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 25 Oct 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

Central nervous system abnormalities in two cases with neonatal Marfan syndrome with novel mutations in the fibrillin-1 gene.PMID 20803651Read ↗

Three novel fibrillin mutations in exons 25 and 27: classic versus neonatal Marfan syndrome.Semantic proximity Read ↗

Neonatal Marfan syndrome: a case report of a novel fibrillin 1 mutation, with genotype-phenotype correlation and brief review of the literature.Semantic proximity Read ↗

A novel mutation of the fibrillin-1 gene in a newborn with severe Marfan syndrome.Semantic proximity Read ↗

Severe neonatal Marfan syndrome with a novel mutation in the intron of the FBN1 gene: A case report.Semantic proximity Read ↗

A novel large in-frame FBN1 deletion causes neonatal Marfan syndrome.Semantic proximity Read ↗

Novel FBN1 gene mutation and maternal germinal mosaicism as the cause of neonatal form of Marfan syndrome.Semantic proximity Read ↗

Marfan syndrome in the third Millennium.Semantic proximity Read ↗

Fibrillin-1 mutations in Marfan syndrome and other type-1 fibrillinopathies.Semantic proximity Read ↗

A novel fibrillin-1 gene missense mutation associated with neonatal Marfan syndrome: a case report and review of the mutation spectrum.Semantic proximity Read ↗

Childhood glaucoma in neonatal Marfan syndrome resulting from a novel FBN1 deletion.Semantic proximity Read ↗

A Novel Fibrillin-1 Gene Mutation Leading to Marfan Syndrome in a Korean Girl.Semantic proximity Read ↗

Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations.Semantic proximity Read ↗

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