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

Optic atrophy, microcephaly, mental retardation and mosaic variegated aneuploidy: a human mitotic mutation.

Annales de genetique - 1 Jan 1994

Bitoun P, Martin-Pont B, Tamboise E, Gaudelus J

Abstract excerpt

A 12-year-old girl presents with optic atrophy, pale papilla, amblyopia and microcephaly (-3 s.d.) with mild mental retardation and facial dysmorphism. She had mitral insufficiency with mitral prolapse and moderate short stature (-2.5 d.s.). She had normal flash visual evoked potentials, normal electroretinograms and electrooculograms and normal cranial CT scan as well as other lab tests to rule out...

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 Genetic Markers

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

Share to Intellectual Disability

Share to Karyotyping

Share to Mitosis

Share to Mosaicism

Share to Mutation

Source

Identifiers

PMID: 7985982

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 · 10 closest

Optic atrophy, microcephaly, mental retardation and mosaic variegated aneuploidy: a human mitotic mutation.PMID 7985982Read ↗

Mosaic variegated aneuploidy with microcephaly: a new human mitotic mutant?Semantic proximity Read ↗

Ophthalmologic abnormalities in Mowat-Wilson syndrome and a mutation in ZEB2.Semantic proximity Read ↗

Cataract in a patient with 47,XYY sex chromosome aneuploidy.Semantic proximity Read ↗

Child with mosaic variegated aneuploidy and embryonal rhabdomyosarcomaSemantic proximity Read ↗

Pigmentary glaucoma in a patient with 48, XXYY syndrome: a case reportSemantic proximity Read ↗

Transient progeroid phenotype and lipodystrophy in mosaic polyploidy.Semantic proximity Read ↗

Pathogenic correlation between mosaic variegated aneuploidy 1 (MVA1) and a novel BUB1B variant: a reappraisal of a severe syndrome.Semantic proximity Read ↗

Clinical and genetic heterogeneity in patients with mosaic variegated aneuploidy: delineation of clinical subtypes.Semantic proximity Read ↗

CEP57 mutation in a girl with mosaic variegated aneuploidy syndrome.Semantic proximity Read ↗

Recessive Mutations in POLR3B Encoding RNA Polymerase III Subunit Causing Diffuse Hypomyelination in Patients with 4H Leukodystrophy with Polymicrogyria and Cataracts.Semantic proximity Read ↗

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