Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Genome-first approach for the characterization of a complex phenotype with combined NBAS and CUL4B deficiency.

Bone - 1 Nov 2020

Ritelli Marco, Palagano Eleonora, Cinquina Valeria, Beccagutti Federica, Chiarelli Nicola, Strina Dario, Hall Ignacio Fernando, Villa Anna, Sobacchi Cristina, Colombi Marina

Abstract excerpt

Biallelic variants in neuroblastoma-amplified sequence (NBAS) cause an extremely broad spectrum of phenotypes. Clinical features range from isolated recurrent episodes of liver failure to multisystemic syndrome including short stature, skeletal osteopenia and dysplasia, optic atrophy, and a variable immunological, cutaneous, muscular, and neurological abnormalities. Hemizygous variants in CUL4B cause syndromic...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cullin Proteins
Share to Infant

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Infant, Newborn

Share to Infant, Premature

Share to Neoplasm Proteins

Share to Neuroblastoma

Share to Placenta

Share to Pregnancy

Source

Identifiers

PMID: 32768688
DOI: 10.1016/j.bone.2020.115571

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genome-first approach for the characterization of a complex phenotype with combined NBAS and CUL4B deficiency.PMID 32768688Read ↗

Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta.Semantic proximity Read ↗

Severe SOPH syndrome due to a novel NBAS mutation in a 27-year-old woman-Review of this pleiotropic, autosomal recessive disorder: Mystery solved after two decades.Semantic proximity Read ↗

<i>FBXO22</i> deficiency defines a pleiotropic syndrome of growth restriction and multi-system anomalies associated with a unique epigenetic signatureSemantic proximity Read ↗

Biallelic ATP2B1 variants as a likely cause of a novel neurodevelopmental malformation syndrome with primary hypoparathyroidism.Semantic proximity Read ↗

Novel compound heterozygous variants in the NBAS gene in a child with osteogenesis imperfecta and recurrent acute liver failure.Semantic proximity Read ↗

Cockayne syndrome patient iPSC-derived brain organoids and neurospheres show early transcriptional dysregulation of biological processes associated with brain development and metabolismSemantic proximity Read ↗

Exome analysis in an Estonian multiplex family with neural tube defects-a case report.Semantic proximity Read ↗

Elucidating the clinical and molecular spectrum of<i>SMARCC2</i>-associated NDD in a cohort of 65 affected individualsSemantic proximity Read ↗

Clinical genomics expands the link between erroneous cell division, primary microcephaly and intellectual disability.Semantic proximity Read ↗

A novel homozygous truncating variant in PPFIBP1 further delineates PPFIBP1-associated neurodevelopmental disorder.Semantic proximity Read ↗

The 15q11.2 BP1-BP2 Microdeletion (Burnside-Butler) Syndrome: In Silico Analyses of the Four Coding Genes Reveal Functional Associations with Neurodevelopmental Phenotypes.Semantic proximity Read ↗

Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.