Disease: Trichomegaly with mental retardation- dwarfism and pigmentary degeneration of retina
- <em>PNPLA6</em> Disorders
- A case of Oliver-McFarlane syndrome caused by PNPLA6 gene mutation
- A new PNPLA6 mutation presenting as Oliver McFarlane syndrome
- Autosomal recessive Oliver-McFarlane syndrome: retinitis pigmentosa, short stature (GH deficiency), trichomegaly, and hair anomalies or CPD syndrome (chorioretinopathy-pituitary dysfunction)
- Congenital trichomegaly (Oliver-McFarlane syndrome): a case report with 9 years' follow up
- Congenital trichomegaly, pigmentary degeneration of the retina and growth retardation (Oliver-McFarlane syndrome): 28-year follow-up of the first reported case
- CONGENITAL TRICHOMEGALY: WITH ASSOCIATED PIGMENTARY DEGENERATION OF THE RETINA, DWARFISM, AND MENTAL RETARDATION
- Delayed Induction of Human NTE (PNPLA6) Rescues Neurodegeneration and Mobility Defects of Drosophila swiss cheese (sws) Mutants
- Different Cerebellar Ataxia Phenotypes Associated with Mutations of the PNPLA6 Gene in Brazilian Patients with Recessive Ataxias
- Eyelash Trichomegaly: A Rare Presenting Feature of Systemic Lupus Erythematosus
- Eyelash trichomegaly: a systematic review of acquired and congenital aetiologies of lengthened lashes
- Eyelash Trichomegaly: Unusual Feature Associated with Systemic Lupus Erythematosus Patient
- Identification of Oliver-McFarlane syndrome caused by novel compound heterozygous variants of PNPLA6
- Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness
- Neuroimaging features in congenital trichomegaly: the Oliver-McFarlane syndrome
- Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes
- Novel variants in PNPLA6 causing syndromic retinal dystrophy
- Oliver McFarlane syndrome and choroidal neovascularisation: a case report
- Oliver McFarlane syndrome: a 25-year follow-up
- Oliver McFarlane syndrome: two new cases and a review of the literature
- Oliver-McFarlane syndrome
- Oliver-McFarlane syndrome (chorioretinopathy-pituitary dysfunction) with prominent early pituitary dysfunction: differentiation from choroideremia-hypopituitarism
- Oliver-McFarlane syndrome in a chinese boy: retinitis pigmentosa, trichomegaly, hair anomalies and mental retardation
- Ovarian stimulation in an infertile patient with growth hormone-deficient Oliver-Mcfarlane syndrome
- Retinitis Pigmentosa in Oliver McFarlane Syndrome
- Trichomegaly in a 3-year-old girl with alopecia areata
- Very long eyelashes, long eyebrows, sparse hair, and mental retardation in two unrelated boys: An atypical form of Oliver-McFarlane syndrome without retinal degeneration, or a new clinical entity?