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

Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails.

Journal of human genetics - 1 Apr 2017

Kariminejad Ariana, Ajeawung Norbert Fonya, Bozorgmehr Bita, Dionne-Laporte Alexandre, Molidperee Sirinart, Najafi Kimia, Gibbs Richard A, Lee Brendan H, Hennekam Raoul C, Campeau Philippe M

Abstract excerpt

Kaufman oculo-cerebro-facial syndrome (KOS) is caused by recessive UBE3B mutations and presents with microcephaly, ocular abnormalities, distinctive facial morphology, low cholesterol levels and intellectual disability. We describe a child with microcephaly, brachycephaly, hearing loss, ptosis, blepharophimosis, hypertelorism, cleft palate, multiple renal cysts, absent nails, small or absent terminal phalanges,...

Read the complete abstract on PubMed

Topics

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

Share to Eczema
Share to Eye Abnormalities

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hand Deformities, Congenital

Share to Karyotype

Share to Limb Deformities, Congenital

Share to Micrognathism

Share to Pathology, Molecular

Source

Open in PubMed Open full text

Identifiers

PMID: 28003643
DOI: 10.1038/jhg.2016.151
PMCID: PMC5370204

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails.PMID 28003643Read ↗

The genetic basis of DOORS syndrome: an exome-sequencing study.Semantic proximity Read ↗

Okur-Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion.Semantic proximity Read ↗

Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations.Semantic proximity Read ↗

DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome.Semantic proximity Read ↗

Deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures (DOORS) syndrome: a new case report from Indonesia and review of the literature.Semantic proximity Read ↗

Meier-Gorlin syndrome due to a recurrent DONSON variant in a Turkish family: first report of thumb aplasia and long-term growth data.Semantic proximity Read ↗

Beaulieu-Boycott-Innes syndrome: an intellectual disability syndrome with characteristic facies.Semantic proximity Read ↗

DOOR syndrome: clinical report, literature review and discussion of natural history.Semantic proximity Read ↗

Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome.Semantic proximity Read ↗

Kaufman oculocerebrofacial syndrome in sisters with novel compound heterozygous mutation in UBE3B.Semantic proximity Read ↗

Novel UBE3B mutations: report of eight patients with Kaufman oculocerebrofacial syndrome with additional clinical findings from a highly consanguineous population.Semantic proximity Read ↗

Case report: two novel VPS13B mutations in a Chinese family with Cohen syndrome and hyperlinear palms.Semantic proximity Read ↗

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