Cargando…

Biallelic loss‐of‐function variants in RBL2 in siblings with a neurodevelopmental disorder

The RBL2 locus has been associated with intelligence and educational attainment but not with a monogenic disorder to date. RBL2 encodes p130, a member of the retinoblastoma protein family, which is involved in mediating neuron survival and death. Previous studies on p130 knockout mice revealing embr...

Descripción completa

Detalles Bibliográficos
Autores principales:	Brunet, Theresa, Radivojkov‐Blagojevic, Milena, Lichtner, Peter, Kraus, Verena, Meitinger, Thomas, Wagner, Matias
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2020
Materias:	Brief Communications
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7086002/ https://www.ncbi.nlm.nih.gov/pubmed/32105419 http://dx.doi.org/10.1002/acn3.50992

Ejemplares similares

Biallelic mutations in PIGP cause developmental and epileptic encephalopathy
por: Krenn, Martin, et al.
Publicado: (2019)

Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish
por: Lin, Sheng-Jia, et al.
Publicado: (2021)

Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities
por: Cali, Elisa, et al.
Publicado: (2023)

A homozygous truncating variant in CCDC186 in an individual with epileptic encephalopathy
por: Brugger, Melanie, et al.
Publicado: (2020)

Biallelic Loss-of-Function Variants in BICD1 Are Associated with Peripheral Neuropathy and Hearing Loss
por: Hirsch, Yoel, et al.
Publicado: (2023)

Novel biallelic loss-of-function variants in CEP290 cause Joubert syndrome in two siblings
por: Wang, Xiang, et al.
Publicado: (2020)

Biallelic ATOH1 Gene Variant in Siblings With Pontocerebellar Hypoplasia, Developmental Delay, and Hearing Loss
por: Višnjar, Tanja, et al.
Publicado: (2022)

Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder
por: Christensen, Maria B., et al.
Publicado: (2022)

Biallelic loss-of-function variants in KCNJ16 presenting with hypokalemic metabolic acidosis
por: Webb, Bryn D., et al.
Publicado: (2021)

A biallelic SNIP1 Amish founder variant causes a recognizable neurodevelopmental disorder
por: Ammous, Zineb, et al.
Publicado: (2021)

A Biallelic Variant in FRA10AC1 Is Associated With Neurodevelopmental Disorder and Growth Retardation
por: Alsaleh, Norah, et al.
Publicado: (2022)

Consolidating the association of biallelic MAPKAPK5 pathogenic variants with a distinct syndromic neurodevelopmental disorder
por: Maroofian, Reza, et al.
Publicado: (2023)

A Novel Biallelic STING1 Gene Variant Causing SAVI in Two Siblings
por: Alghamdi, Malak Ali, et al.
Publicado: (2021)

Biallelic variants in DNA2 cause microcephalic primordial dwarfism
por: Tarnauskaitė, Žygimantė, et al.
Publicado: (2019)

Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function
por: Rehman, Atteeq U., et al.
Publicado: (2018)

Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies
por: Dworschak, Gabriel C., et al.
Publicado: (2021)

Severe Familial Exudative Vitreoretinopathy, Congenital Hearing Loss, and Developmental Delay in a Child With Biallelic Variants in FZD4
por: van der Ende, Sarah R., et al.
Publicado: (2022)

Biallelic loss of EMC10 leads to mild to severe intellectual disability
por: Kaiyrzhanov, Rauan, et al.
Publicado: (2022)

Biallelic truncation variants in ATP9A are associated with a novel autosomal recessive neurodevelopmental disorder
por: Mattioli, Francesca, et al.
Publicado: (2021)

KCNK18 Biallelic Variants Associated with Intellectual Disability and Neurodevelopmental Disorders Alter TRESK Channel Activity
por: Pavinato, Lisa, et al.
Publicado: (2021)

Biallelic germline nonsense variant of MLH3 underlies polyposis predisposition
por: Olkinuora, Alisa, et al.
Publicado: (2018)

Biallelic loss of function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental delay syndrome
por: Engal, Eden, et al.
Publicado: (2023)

High risk of breast cancer in women with biallelic pathogenic variants in CHEK2
por: Rainville, Irene, et al.
Publicado: (2020)

Consolidating biallelic SDHD variants as a cause of mitochondrial complex II deficiency
por: Lin, Siying, et al.
Publicado: (2021)

Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy
por: Verdura, Edgard, et al.
Publicado: (2021)

De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy
por: Singh, Sakshi, et al.
Publicado: (2020)

Biallelic NPR1 loss of function variants are responsible for neonatal systemic hypertension
por: Capri, Yline, et al.
Publicado: (2023)

Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination
por: Efthymiou, Stephanie, et al.
Publicado: (2019)

A de novo missense variant in GABRA4 alters receptor function in an epileptic and neurodevelopmental phenotype
por: Vogel, Florian D., et al.
Publicado: (2022)

Biallelic SORD pathogenic variants cause Chinese patients with distal hereditary motor neuropathy
por: Dong, Hai-Lin, et al.
Publicado: (2021)

A Biallelic Variant of the RNA Exosome Gene EXOSC4 Causes Translational Defects Associated with a Neurodevelopmental Disorder
por: Fasken, Milo B., et al.
Publicado: (2023)

Biallelic variants in VARS in a family with two siblings with intellectual disability and microcephaly: case report and review of the literature
por: Okur, Volkan, et al.
Publicado: (2018)

Biallelic Loss‐of‐Function NDUFA12 Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh‐Like Syndrome to Isolated Optic Atrophy
por: Magrinelli, Francesca, et al.
Publicado: (2022)

Biallelic Variants in EPHA2 Identified in Three Large Inbred Families with Early-Onset Cataract
por: Jarwar, Priya, et al.
Publicado: (2021)

Emotional–Behavioral Disorders in Healthy Siblings of Children with Neurodevelopmental Disorders
por: Caliendo, Mariarosaria, et al.
Publicado: (2020)

Biallelic SEPSECS variants in two siblings with pontocerebellar hypoplasia type 2D underscore the relevance of splice-disrupting synonymous variants in disease
por: Ramadesikan, Swetha, et al.
Publicado: (2022)

Biallelic truncating variants in ATP9A cause a novel neurodevelopmental disorder involving postnatal microcephaly and failure to thrive
por: Vogt, Guido, et al.
Publicado: (2022)

Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies
por: Iqbal, Maria, et al.
Publicado: (2021)

Biallelic variants in OGDH encoding oxoglutarate dehydrogenase lead to a neurodevelopmental disorder characterized by global developmental delay, movement disorder, and metabolic abnormalities
por: Whittle, Ella F., et al.
Publicado: (2023)

Attention-deficit/hyperactivity disorder and risk for psychiatric and neurodevelopmental disorders in siblings
por: Jokiranta-Olkoniemi, Elina, et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_sh5jmbmmbov81f08gj2s4s0agq