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

Joubert syndrome: monozygotic twins with discordant phenotypes.

Journal of child neurology - 1 Oct 1999

Raynes H R, Shanske A, Goldberg S, Burde R, Rapin I

Abstract excerpt

We describe three sisters with Joubert syndrome, two of whom are monozygotic twins with highly discordant phenotypes. The twins were born at 34 weeks' gestation with discordant birthweights. Their anatomic, neurologic, and developmental status differs greatly: Twin B is able to walk, run, and is verbal, unlike Twin A who is wheelchair-bound, severely retarded, nonverbal, and autistic. Abnormal eye movements and...

Read the complete abstract on PubMed

Topics

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

Share to Cerebellum
Share to Developmental Disabilities
Share to Diseases in Twins

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

Share to Fetal Growth Retardation

Share to Neurologic Examination

Share to Spinocerebellar Ataxias

Share to Syndrome

Share to Twins, Monozygotic

Source

Identifiers

PMID: 10511337
DOI: 10.1177/088307389901401005

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

Joubert syndrome: monozygotic twins with discordant phenotypes.PMID 10511337Read ↗

Genotypes and phenotypes of Joubert syndrome and related disorders.Semantic proximity Read ↗

Joubert syndrome: review and report of seven new cases.Semantic proximity Read ↗

Prenatal diagnosis of Joubert syndrome: A case report and literature review.Semantic proximity Read ↗

The face of Joubert syndrome: a study of dysmorphology and anthropometry.Semantic proximity Read ↗

Clinical Nosologic and Genetic Aspects of Joubert and Related SyndromesSemantic proximity Read ↗

Molar Tooth Sign in Fetal Brain Magnetic Resonance Imaging Leading to the Prenatal Diagnosis of Joubert Syndrome and Related DisordersSemantic proximity Read ↗

Growth in Joubert syndrome: Growth curves and physical measurements with correlation to genotype and hepatorenal disease in 170 individuals.Semantic proximity Read ↗

Clinical features and revised diagnostic criteria in Joubert syndrome.Semantic proximity Read ↗

Identical twins with Weissenbacher-Zweymüller syndrome and neural tube defect.Semantic proximity Read ↗

[Prenatal diagnosis of Joubert syndrome:one case report and literature review].Semantic proximity Read ↗

Identical but not the same: the value of discordant monozygotic twins in genetic research.Semantic proximity Read ↗

Monozygotic twins discordant for external hydrocephalus.Semantic proximity Read ↗

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