Disease: Megalocornea mental retardation syndrome
- <em>PNPLA6</em> Disorders
- <em>PNPLA6</em> disorders: what's in a name?
- A case of megalocornea-mental retardation syndrome complicated with bilateral sensorineural hearing impairment
- A case of spinocerebellar ataxia type 3 (SCA3) associated with isolated ACTH deficiency
- A de novo hexokinase 1 (HK1) variant presenting as Boucher-Neuhauser syndrome
- A new family of Boucher-Neuhauser syndrome: coexistence of Holmes type cerebellar atrophy, hypogonadotropic hypogonadism and retinochoroidal degeneration: case reports and review of literature
- A new family with chorioretinal dystrophy, spinocerebellar ataxia and hypogonadotropic hypogonadism (Boucher-Neuhauser syndrome)
- A Novel PGAP3 Gene Mutation-Related Megalocornea Can Be Misdiagnosed as Primary Congenital Glaucoma
- A novel PNPLA6 compound heterozygous mutation identified in a Chinese patient with Boucher-Neuhauser syndrome
- A novel PNPLA6 compound heterozygous mutation identified in a Chinese patient with Boucher‑Neuhäuser syndrome
- A patient with cerebellar ataxia, hypogonadotropic hypogonadism and vitelliform macular dystrophy: Boucher-Neuhauser syndrome
- A phenotypic description of 26 patients with Ritscher-Schinzel syndrome (cranio-cerebello-cardiac dysplasia or 3C syndrome)
- A rare case of Neuhauser syndrome associated with a Kommerell diverticulum
- Additional case of Neuhäuser megalocornea and mental retardation syndrome with congenital hypotonia
- Are hypersegmented neutrophils a characteristic of Boucher-Neuhauser syndrome?
- Association of CHRDL1 mutations and variants with X-linked megalocornea, Neuhauser syndrome and central corneal thickness
- Ataxia meets chorioretinal dystrophy and hypogonadism: Boucher-Neuhauser syndrome due to PNPLA6 mutations
- Ataxia-hypogonadism syndrome (Boucher-Neuhauser syndrome)
- Autosomal-dominant inheritance of megalocornea associated with down's syndrome
- Boucher Neuhauser Syndrome - A rare cause of inherited hypogonadotropic hypogonadism. A case of two adult siblings with two novel mutations in PNPLA6
- Boucher Neuhauser Syndrome in Twins: A Rare and Unusual Cause of Cerebellar Ataxia
- Boucher-Neuhauser syndrome
- Boucher-Neuhauser syndrome associated with hypocalciuric hypercalcemia
- Boucher-Neuhauser syndrome: cerebellar degeneration, chorioretinal dystrophy and hypogonadotropic hypogonadism: two novel cases and a review of 40 cases from the literature
- Boucher-Neuhauser Syndrome: Chorioretinal Changes in a Single Case Over Time
- CHORIORETINAL CHANGES IN A GENETICALLY CONFIRMED CASE OF BOUCHER-NEUHAUSER SYNDROME
- Chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia: Boucher-Neuhauser syndrome due to a homozygous (c.3524C>G (p.Ser1175Cys)) variant in <em>PNPLA6</em> gene
- Chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia: Boucher-Neuhauser syndrome due to a homozygous (c.3524C>G (p.Ser1175Cys)) variant in PNPLA6 gene
- Complex limbal choristoma in linear nevus sebaceous syndrome managed with scleral grafting
- Complex movement disorders in a sporadic Boucher-Neuhauser Syndrome: Phenotypic manifestations beyond the triad
- Compound heterozygous PNPLA6 mutations cause Boucher-Neuhauser syndrome with late-onset ataxia
- Delineating the phenotypic spectrum of hyperphosphatasia with mental retardation syndrome 4 in 14 patients of Middle-Eastern origin
- Detailed retinal phenotype of Boucher-Neuhäuser syndrome associated with mutations in <em>PNPLA6</em> mimicking choroideremia
- Detailed retinal phenotype of Boucher-Neuhauser syndrome associated with mutations in PNPLA6 mimicking choroideremia
- Different Cerebellar Ataxia Phenotypes Associated with Mutations of the PNPLA6 Gene in Brazilian Patients with Recessive Ataxias
- Endocrine disorders and the cerebellum: from neurodevelopmental injury to late-onset ataxia
- Glaucoma and findings simulating glaucoma in the Rubinstein-Taybi syndrome
- Heterogeneity versus variability in megalocornea-mental retardation (MMR) syndromes: report of new cases and delineation of 4 probable types
- Hypogonadotrophic hypogonadism, short stature, cerebellar ataxia, rod-cone retinal dystrophy, and hypersegmented neutrophils: a novel disorder or a new variant of Boucher-Neuhauser syndrome?
- Hypogonadotropic hypogonadism discovered in a patient with cerebellar ataxia
- Identification of Novel Compound Heterozygous Variants of the <em>PNPLA6</em> Gene in Boucher-Neuhäuser Syndrome
- Identification of Novel Compound Heterozygous Variants of the PNPLA6 Gene in Boucher-Neuhauser Syndrome
- Integrated STS/YAC physical, genetic, and transcript map of human Xq21.3 to q23/q24 (DXS1203-DXS1059)
- Late-onset Boucher-Neuhauser Syndrome (late BNS) associated with white-matter changes: a report of two cases and review of literature
- Megalocornea and mental retardation syndrome
- Megalocornea and mental retardation syndrome: a new case
- Megalocornea and mental retardation syndrome: clinical and instrumental follow-up of a case
- Megalocornea and mental retardation syndrome: two new cases
- MEGALOCORNEA SHOULD BE INVESTIGATED IN CASES WITH HYPOTONIA AND MENTAL RETARDATION: NEUHAUSER SYNDROME--AN EASILY MISSED DIAGNOSIS
- Megalocornea-mental retardation (MMR or Neuhauser) syndrome: another case associated with cerebral cortical atrophy and Bifid uvula
- Megalocornea-mental retardation syndrome
- Megalocornea-mental retardation syndrome
- Megalocornea-mental retardation syndrome: an additional case
- Megalocornea-mental retardation syndrome: an additional case report
- Megalocornea-mental retardation syndrome: report of a new case
- Megalocornea, macrocephaly, mental and motor retardation (MMMM)
- Megalocornea, macrocephaly, mental and motor retardation: MMMM syndrome (Neuhauser syndrome) in two sisters with hypoplastic corpus callosum
- MMMM syndrome (macrocephaly, megalocornea, motor and mental retardation) and refractory epilepsy
- Multifaceted and Age-Dependent Phenotypes Associated With Biallelic <em>PNPLA6</em> Gene Variants: Eight Novel Cases and Review of the Literature
- Neuhauser syndrome and Peters' anomaly
- Neuhauser syndrome: a rare association of megalocornea and mental retardation. Review of the literature and further phenotype delineation
- Neuhauser syndrome: the facial dysmorphic phenotype
- Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders
- Neuropsychological assessment of Boucher-Neuhauser syndrome: A case report
- Novel mutations in the PNPLA6 gene in Boucher-Neuhauser syndrome
- Novel variants in PNPLA6 causing syndromic retinal dystrophy
- Ophthalmologic findings in a patient with cerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy
- Ophthalmologic findings of Boucher-Neuhauser syndrome
- Phenotypic spectrum of POLR3B mutations: isolated hypogonadotropic hypogonadism without neurological or dental anomalies
- PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum
- Potocki-Lupski Syndrome Dup17p11.2 in a Girl with Hypotonia and Early Behavioural Disturbances
- Primary hypothyroidism and osteopenia associated with Neuhauser syndrome
- Prominent expression of spinocerebellar ataxia type-1 (SCA1) gene encoding ataxin-1 in LH-producing cells, LbetaT2
- Severe chorioretinal atrophy in Boucher-Neuhauser syndrome
- Significance of neuroimaging in the diagnosis of Boucher-Neuhauser syndrome
- Spinocerebellar ataxia, hypogonadotropic hypogonadism, and choroidal dystrophy (Boucher-Neuhauser syndrome)
- Sturge-Weber syndrome: Continued vigilance is needed
- Syndrome of mental retardation, seizures, hypotonic cerebral palsy and megalocorneae, recessively inherited
- The clinical spectrum of inherited diseases involved in the synthesis and remodeling of complex lipids. A tentative overview
- The First Korean Family With Boucher-Neuhäuser Syndrome Carrying a Novel Mutation in <em>PNPLA6</em>
- The First Korean Family With Boucher-Neuhauser Syndrome Carrying a Novel Mutation in PNPLA6
- The gonadotropin-releasing hormone type I receptor is expressed in the mouse cerebellum
- Two case reports of a novel missense mutation in the PNPLA6 gene in two siblings with chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia
- Two sibs with chorioretinal dystrophy, hypogonadotrophic hypogonadism, and cerebellar ataxia: Boucher-Neuhauser syndrome
- Visual impairment and prolonged survival in a girl with Marshall-Smith syndrome
- X-linked megalocornea caused by mutations in CHRDL1 identifies an essential role for ventroptin in anterior segment development