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

[Clinical outcome of distinct Aicardi syndrome phenotypes].

Archivos de la Sociedad Espanola de Oftalmologia - 1 Jan 2008

Galdós M, Martínez R, Prats J M

Abstract excerpt

OBJECTIVE: Three cases of Aicardi Syndrome were diagnosed in our hospital. This syndrome is a rare, female-restricted genetic disease, characterized by agenesis of the corpus callosum, other central nervous system malformations, and chorioretinal lacunae. We have compared these cases with other c...

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 Agenesis of Corpus Callosum
Share to Child

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Child, Preschool

Share to Eye Abnormalities

Share to Infant, Newborn

Share to Intellectual Disability

Share to Syndrome

Source

Identifiers

PMID: 18188792
DOI: 10.4321/s0365-66912008000100007

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18188792-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Clinical outcome of distinct Aicardi syndrome phenotypes].PMID 18188792Read ↗

[Aicardi syndrome: retrospective study of a series of seven case reports].Semantic proximity Read ↗

Aicardi syndrome, an unsolved mystery: Review of diagnostic features, previous attempts, and future opportunities for genetic examinationSemantic proximity Read ↗

Aicardi syndrome in a genotypic male.Semantic proximity Read ↗

Phenotype and management of Aicardi syndrome: new findings from a survey of 69 children.Semantic proximity Read ↗

Facial and physical features of Aicardi syndrome: infants to teenagers.Semantic proximity Read ↗

A De Novo Mutation in TEAD1 Causes Non-X-Linked Aicardi Syndrome.Semantic proximity Read ↗

Hepatic Adenomatosis in Aicardi Syndrome: A Clinical Report and Review of The LiteratureSemantic proximity Read ↗

Aicardi syndrome in a male patient.Semantic proximity Read ↗

Aicardi Syndrome Associated with Autosomal Genomic Imbalance: Coincidence or Evidence for Autosomal Inheritance with Sex-Limited Expression?Semantic proximity Read ↗

Anophthalmia and microphthalmia in children: associated ocular, somatic and genetic morbidities and quality of lifeSemantic proximity Read ↗

Update on the Toriello-Carey syndrome.Semantic proximity Read ↗

Revisiting acrania: same phenotype, different aetiologies.Semantic proximity Read ↗

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