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

[A case of Oliver-McFarlane syndrome caused by PNPLA6 gene mutation].

[Zhonghua yan ke za zhi] Chinese journal of ophthalmology - 11 Jun 2023

Shi J, Zhang X, Xu K, Xie Y, Zhang X H, Li Y

Abstract excerpt

Oliver-McFarlane syndrome is a rare genetic disorder characterized by long eyelashes, choroidoretinal atrophy, and multiple pituitary hormone deficiencies. The patient in this case is a 29-year-old female who has suffered from night blindness, low vision, and long eyelashes since childhood. Through genetic sequencing, she was diagnosed with compound heterozygous variaton in the PNPLA6 gene, indicating...

Topics

Join the communities discussing this publication.

Acyltransferases
Blepharoptosis
Developmental Disabilities
Dwarfism
Hypertrichosis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Intellectual Disability

Retinitis Pigmentosa

Source

Identifiers

PMID: 37264580
DOI: 10.3760/cma.j.cn112142-20220627-00316

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[A case of Oliver-McFarlane syndrome caused by PNPLA6 gene mutation].PMID 37264580Read ↗

Identification of Oliver-McFarlane syndrome caused by novel compound heterozygous variants of PNPLA6.Semantic proximity Read ↗

Novel PAX6 variant in a family with ophthalmologic, pancreatic, and olfactory features.Semantic proximity Read ↗

Novel variants in PNPLA6 causing syndromic retinal dystrophy.Semantic proximity Read ↗

Phenotype Variability in Czech Patients Carrying PAX6 Disease-Causing Variants.Semantic proximity Read ↗

New insights into Oliver-McFarlane syndrome: adrenocortical hypofunction and variable expressivity in a Chinese sibling pair.Semantic proximity Read ↗

[Kallmann syndrome in a girl caused by a novel CHD7 variant].Semantic proximity Read ↗

Ocular Manifestations in Patients with Werner Syndrome.Semantic proximity Read ↗

Beware of Leigh Syndrome Pedigrees with MT-ATP6 Mutation Whose Primary Diagnosis is Retinitis PigmentosaSemantic proximity Read ↗

Two case reports of a novel missense mutation in the PNPLA6 gene in two siblings with chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia.Semantic proximity Read ↗

Chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia: Boucher-Neuhauser syndrome due to a homozygous (c.3524C>G (p.Ser1175Cys)) variant in PNPLA6 gene.Semantic proximity Read ↗

Microphthalmia and anterior segment dysgenesis due to a double gene variant in GJA8 and CRYGC.Semantic proximity Read ↗

PAX6 mutation in association with ptosis, cataract, iris hypoplasia, corneal opacification and diabetes: a new variant of familial aniridia?Semantic proximity Read ↗

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