Chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia: Boucher-Neuhauser syndrome due to a homozygous (c.3524C>G (p.Ser1175Cys)) variant in PNPLA6 gene-Reference-Cited by-同舟云学术

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

Published:2021-03-02 Issue:3 Volume:42 Page:276-282
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Doğan Mustafa¹^ORCID,Eröz Recep²^ORCID,Öztürk Emrah³^ORCID

Affiliation:

1. Department of Medical Genetics, Malatya Turgut Özal University Medical Faculty, Malatya, Turkey

2. Department of Medical Genetics, Duzce University Medical Faculty, Duzce, Turkey

3. Department of Ophthalmology, Malatya Training and Research Hospital, Malatya, Turkey

Funder

There is no funding

Publisher

Informa UK Limited

Subject

Genetics (clinical),Ophthalmology,Pediatrics, Perinatology and Child Health

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2021.1894461

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1. Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders;Brain;2024-05-13

2. Neuropathy target esterase activity predicts retinopathy amongPNPLA6disorders;2023-06-11

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5. DNA Methylation of Patatin-Like Phospholipase Domain-Containing Protein 6 Gene Contributes to the Risk of Intracranial Aneurysm in Males;Frontiers in Aging Neuroscience;2022-07-11