Boucher Neuhäuser Syndrome – A rare cause of inherited hypogonadotropic hypogonadism. A case of two adult siblings with two novel mutations in PNPLA6
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics,General Medicine
Reference8 articles.
1. Expert consensus document: European Consensus Statement on congenital hypogonadotropic hypogonadism–pathogenesis, diagnosis and treatment;Boehm;Nat. Rev. Endocrinol.,2015
2. Familial ataxia, hypogonadism and retinal degeneration;Boucher;Acta Neurol. Scand.,1969
3. Clinical manifestations of impaired GnRH neuron development and function;Kim;Neurosignals,2008
4. Spinocerebellar ataxia, hypogonadotropic hypogonadism, and choroidal dystrophy (Boucher-Neuhauser syndrome);Limber;Am. J. Med. Genet.,1989
5. Autosomal recessive syndrome of cerebellar ataxia and hypogonadotropic hypogonadism;Neuhauser;Clin. Genet.,1975
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1. Homozygous germline c.3380C>G missense mutation in PNPLA6 gene in a case of Gordon Holmes syndrome associated with hypogonadotropic hypogonadism, cerebellar ataxia, and juvenile type tremor;Journal of Neurosciences in Rural Practice;2024-07-19
2. Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders;Brain;2024-05-13
3. Two case reports of a novel missense mutation in the PNPLA6 gene in two siblings with chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia;Molecular Biology Reports;2024-04-29
4. Two case reports of a novel missense mutation in the PNPLA6 gene in two siblings with chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia.;2024-01-22
5. PNPLA6 disorders: what’s in a name?;Ophthalmic Genetics;2023-09-21
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