Associated Papers
Pleiotropic genes linking congenital hypogonadotropic hypogonadism and cleft lip/palate: evidence from a genomic CHH cohort study.
Correa FA et al.
European Journal of Human Genetics : Ejhg, 2026
Two Cases of PNPLA6 -Associated Ataxia with Novel Mutations.
Nuzhnyi EP et al.
Neurology India, 2025
Chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia: Boucher-Neuhauser syndrome due to a homozygous (c.3524C>G (p.Ser1175Cys)) variant in PNPLA6 gene.
Doğan M et al.
Ophthalmic Genetics, 2021
CHORIORETINAL CHANGES IN A GENETICALLY CONFIRMED CASE OF BOUCHER-NEUHÄUSER SYNDROME.
DeNaro BB et al.
Retinal Cases & Brief Reports, 2021
Novel variants in PNPLA6 causing syndromic retinal dystrophy.
Wu S et al.
Experimental Eye Research, 2021
Select a paper to view details