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

Expanding the genetic spectrum of ALKU syndrome: Compound heterozygosity for two deleterious variants in SMG8 gene.

American journal of medical genetics. Part A - 1 Aug 2023

Fernandes André Aires, Grangeia Ana, Dias Leonor, Guimarães Joana

Abstract excerpt

Alzahrani-Kuwahara syndrome (ALKUS) is a neurodevelopmental disorder that includes microcephaly, facial dysmorphism, and variable congenital and eye malformations. We present the first case of ALKUS described in the European population caused by two variants in compound heterozygosity of the gene SMG8. We present a patient with two variants in compound heterozygosity in the SMG8 gene identified by in trio whole...

Read the complete abstract on PubMed

Topics

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

Share to Intellectual Disability
Share to Microcephaly

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Nervous System Malformations

Share to Neurodevelopmental Disorders

Share to Phenotype

Share to Syndrome

Source

Identifiers

PMID: 37194129
DOI: 10.1002/ajmg.a.63242

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Expanding the genetic spectrum of ALKU syndrome: Compound heterozygosity for two deleterious variants in SMG8 gene.PMID 37194129Read ↗

Expanding the phenotypic and allelic spectrum of SMG8: Clinical observations reveal overlap with SMG9-associated disease trait.Semantic proximity Read ↗

The first Turkish family with a novel biallelic missense variant of the ALKBH8 gene: A study on the clinical and variant spectrum of ALKBH8-related intellectual developmental disorders.Semantic proximity Read ↗

Compound Phenotype Due to Recessive Variants in LARP7 and OTOG Genes Disclosed by an Integrated Approach of SNP-Array and Whole Exome Sequencing.Semantic proximity Read ↗

Recurrent null mutation in SPG20 leads to Troyer syndrome.Semantic proximity Read ↗

Chromosomal microarray in a highly consanguineous population: diagnostic yield, utility of regions of homozygosity, and novel mutations.Semantic proximity Read ↗

Novel Mutation in LARP7 in Two Iranian Consanguineous Families with Syndromic Intellectual Disability and Facial Dysmorphism.Semantic proximity Read ↗

[Clinical and genetic analysis of a child with Alazami syndrome due to compound heterozygous variants of LARP7 gene].Semantic proximity Read ↗

Expanding the genetic spectrum of autosomal recessive microcephaly in Pakistani families.Semantic proximity Read ↗

A patient with compound heterozygosity of SMPD4: Another example of utility of exome-based copy number analysis in autosomal recessive disorders.Semantic proximity Read ↗

Genotypic and Phenotypic Landscape of KBG Syndrome: A Study of 23 Turkish Individuals.Semantic proximity Read ↗

Exome sequencing reveals genetic heterogeneity in consanguineous Pakistani families with neurodevelopmental and neuromuscular disorders.Semantic proximity Read ↗

SMG9-deficiency syndrome caused by a homozygous missense variant: Expanding the genotypic and phenotypic spectrum of this developmental disorder.Semantic proximity Read ↗

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