Article

Novel Imaging and Clinical Manifestations of Ndmsba Disorder Caused by a Homozygous Missense Variant of Plaa

2021-04-13

Abstract excerpt

<title>Abstract</title> <p>BackgroundPhospholipase A-2-activating protein (PLAP) has essential roles in biological pathways. Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies (NDMSBA) is a complex neurodevelopmental disease caused by defects in the <italic>PLAA</italic> gene (MIM: 603873). Herein, we aimed to detect the potential genetic factors contributing to the NDMSBA...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: d7ec2168-f275-5959-bdee-71aef5a8cbab
DOI: 10.21203/rs.3.rs-407675/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Novel Imaging and Clinical Manifestations of Ndmsba Disorder Caused by a Homozygous Missense Variant of PlaaDOI 10.21203/rs.3.rs-407675/v1Read

New Imaging and Clinical Manifestations of NDMSBA Disorder Caused by a Novel Homozygous Missense Variant of PLAASemantic proximity Read

Intellectual Disability & Rare Disorders: A Diagnostic Challenge.Semantic proximity Read

Targeted re-sequencing in malformations of cortical development: genotype-phenotype correlations.Semantic proximity Read

NGS-driven molecular diagnosis of heterogeneous hereditary neurological disorders reveals novel and known variants in disease-causing genes.Semantic proximity Read

Exploring unsolved cases of lissencephaly spectrum: integrating exome and genome sequencing for higher diagnostic yield.Semantic proximity Read

Expanding The Clinical Phenotype and Genetic Spectrum of PURA-Related Neurodevelopmental DisordersSemantic proximity Read

Distinct genetic etiologies with overlapping neurodevelopmental phenotypes: a two-case series involving GNAI1 and CHAMP1 variantsSemantic proximity Read

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlationsSemantic proximity Read

Whole-exome-based single nucleotide variants and copy number analysis for prenatal diagnosis of compound heterozygosity of SMPD4.Semantic proximity Read

Exploring the clinical, neuroimaging, and genetic spectrum of PLPBP deficiency: multicenter case series and systematic review.Semantic proximity Read

Broadening the phenotype and genotype spectrum of novel mutations in pontocerebellar hypoplasia with a comprehensive molecular literature review.Semantic proximity Read

Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegiaSemantic proximity Read