Cargando…

Two Different PRKN Compound Heterozygous Variants Combinations in the Same Family

Detalles Bibliográficos
Autores principales:	Biehler, Margaux, Ravel, Jean‐Marie, Tir, Mélissa, Calmels, Nadège, Schalk, Audrey
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley & Sons, Inc. 2023
Materias:	Letters: Genotype and Phenotype
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10187002/ https://www.ncbi.nlm.nih.gov/pubmed/37205239 http://dx.doi.org/10.1002/mdc3.13725

Ejemplares similares

Genotype-phenotype correlations for pancreatic cancer risk in Dutch melanoma families with pathogenic CDKN2A variants
por: Overbeek, Kasper A, et al.
Publicado: (2021)

Spinocerebellar Ataxia Type 35 Caused by a New TGM6 Variant: Video Documentation of a German Family
por: Maass, Fabian, et al.
Publicado: (2023)

Gastric polyposis and desmoid tumours as a new familial adenomatous polyposis clinical variant associated with APC mutation at the extreme 3′-end
por: Disciglio, Vittoria, et al.
Publicado: (2020)

Defining the phenotypical spectrum associated with variants in TUBB2A
por: Brock, Stefanie, et al.
Publicado: (2021)

Variable skeletal phenotypes associated with biallelic variants in PRKG2
por: Pagnamenta, Alistair T, et al.
Publicado: (2022)

A Novel Homozygous ADCY5 Variant is Associated with a Neurodevelopmental Disorder and Movement Abnormalities
por: Kaiyrzhanov, Rauan, et al.
Publicado: (2021)

Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders
por: Calpena, Eduardo, et al.
Publicado: (2022)

Impact of pathogenic FBN1 variant types on the development of severe scoliosis in patients with Marfan syndrome
por: Taniguchi, Yuki, et al.
Publicado: (2023)

Spastic Paraplegia and Cognitive Impairment Due to a De Novo Pathogenic Variant in Presenilin‐1
por: Muñoz, Esteban, et al.
Publicado: (2022)

Biallelic GINS2 variant p.(Arg114Leu) causes Meier-Gorlin syndrome with craniosynostosis
por: Nabais Sá, Maria J, et al.
Publicado: (2022)

Challenges in Establishing the Diagnosis of PRRT2 ‐Related Dystonia: Recurrent Pathogenic Variants in a Homopolymeric Stretch
por: Dzinovic, Ivana, et al.
Publicado: (2023)

Variant type and position predict two distinct limb phenotypes in patients with GLI3-mediated polydactyly syndromes
por: Baas, Martijn, et al.
Publicado: (2021)

Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant
por: Justel, Maria, et al.
Publicado: (2023)

AKAP2 identified as a novel gene mutated in a Chinese family with adolescent idiopathic scoliosis
por: Li, Wei, et al.
Publicado: (2016)

A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants
por: Sharma, Manu, et al.
Publicado: (2012)

A missense mutation in the CRBN gene that segregates with intellectual disability and self-mutilating behaviour in a consanguineous Saudi family
por: Sheereen, Atia, et al.
Publicado: (2017)

Higher burden of rare frameshift indels in genes related to synaptic transmission separate familial hemiplegic migraine from common types of migraine
por: Rasmussen, Andreas Hoiberg, et al.
Publicado: (2020)

Can the diagnosis of NF1 be excluded clinically? A lack of pigmentary findings in families with spinal neurofibromatosis demonstrates a limitation of clinical diagnosis
por: Burkitt Wright, Emma MM, et al.
Publicado: (2013)

A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype
por: Alston, Charlotte L, et al.
Publicado: (2016)

Use of a rare disease registry for establishing phenotypic classification of previously unassigned GLA variants: a consensus classification system by a multispecialty Fabry disease genotype–phenotype workgroup
por: Germain, Dominique P, et al.
Publicado: (2020)

PNPLA6‐Related Disorder with Levodopa‐Responsive Parkinsonism
por: Kazanci, Serdar, et al.
Publicado: (2022)

Axenfeld-Rieger syndrome: more than meets the eye
por: Reis, Linda M., et al.
Publicado: (2023)

The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease
por: Ng, Yi Shiau, et al.
Publicado: (2016)

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism
por: Ansari, Morad, et al.
Publicado: (2014)

Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing
por: Lopes, Luis R, et al.
Publicado: (2013)

Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS
por: McDonald-McGinn, Donna M, et al.
Publicado: (2013)

The novel mitochondrial 16S rRNA 2336T>C mutation is associated with hypertrophic cardiomyopathy
por: Liu, Zhong, et al.
Publicado: (2014)

The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype
por: Hamilton, Alexander J, et al.
Publicado: (2014)

Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency
por: Alston, Charlotte L, et al.
Publicado: (2012)

Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study
por: Le Quesne Stabej, Polona, et al.
Publicado: (2011)

De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy
por: Blanchard, Maxime G, et al.
Publicado: (2015)

A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome
por: Azzi, Salah, et al.
Publicado: (2015)

Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis
por: Trump, Natalie, et al.
Publicado: (2016)

Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation
por: Spiegel, Ronen, et al.
Publicado: (2016)

Molecular findings from 537 individuals with inherited retinal disease
por: Ellingford, Jamie M, et al.
Publicado: (2016)

Genetic Severity Score predicts clinical phenotype in NF2
por: Halliday, Dorothy, et al.
Publicado: (2017)

Mutations in IRS4 are associated with central hypothyroidism
por: Heinen, Charlotte A, et al.
Publicado: (2018)

KCNQ1 p.L353L affects splicing and modifies the phenotype in a founder population with long QT syndrome type 1
por: Kapplinger, Jamie D, et al.
Publicado: (2017)

Clinical course of sly syndrome (mucopolysaccharidosis type VII)
por: Montaño, Adriana M, et al.
Publicado: (2016)

Medical and neurobehavioural phenotypes in carriers of X-linked ichthyosis-associated genetic deletions in the UK Biobank
por: Brcic, Lucija, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_4r3bkisfpgaku863qp9scohd35