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

Recurrent RTTN mutation leading to severe microcephaly, polymicrogyria and growth restriction.

European journal of medical genetics - 1 Dec 2018

Cavallin Mara, Bery Amandine, Maillard Camille, Salomon Laurent J, Bole Christine, Reilly Madeline Louise, Nitschké Patrick, Boddaert Nathalie, Bahi-Buisson Nadia

Abstract excerpt

Autosomal recessive missense Rotatin (RTTN) mutations are responsible for syndromic forms of malformation of cortical development, ranging from isolated polymicrogyria to microcephaly associated with primordial dwarfism and other major malformations. We identified, by trio based whole exome sequencing, a homozygous missense mutation in the RTTN gene (c.2953A > G; p.(Arg985Gly)) in one Moroccan patient from a...

Read the complete abstract on PubMed

Topics

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

Share to Carrier Proteins
Share to Cell Cycle Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Consanguinity

Share to Databases, Genetic

Share to Dwarfism

Share to Microcephaly

Share to Morocco

Share to Mutation, Missense

Source

Identifiers

PMID: 30121372
DOI: 10.1016/j.ejmg.2018.08.001

Genes

RTTN

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

Recurrent RTTN mutation leading to severe microcephaly, polymicrogyria and growth restriction.PMID 30121372Read ↗

Expanding the phenotype of RTTN variations: a new family with primary microcephaly, severe growth failure, brain malformations and dermatitis.Semantic proximity Read ↗

A neuropathological study of novel RTTN gene mutations causing a familial microcephaly with simplified gyral pattern.Semantic proximity Read ↗

Functional characterization of biallelic RTTN variants identified in an infant with microcephaly, simplified gyral pattern, pontocerebellar hypoplasia, and seizures.Semantic proximity Read ↗

RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans.Semantic proximity Read ↗

Further insights into the spectrum phenotype of TRAPPC9 and CDK5RAP2 genes, segregating independently in a large Tunisian family with intellectual disability and microcephaly.Semantic proximity Read ↗

MECP2 Variant Spectrum and Genotype-Phenotype Correlations in Iranian Rett Syndrome Patients: Identification of a Novel Frameshift Mutation.Semantic proximity Read ↗

A novel de novo frameshift variant in ZMYM2 expands the neuropsychiatric spectrum of NECRC syndrome: a case report.Semantic proximity Read ↗

De Novo TRIO Missense Variants Disrupt Ras-GEF Domains and Cause Congenital Ventriculomegaly and Hydrocephalus.Semantic proximity Read ↗

Heterogeneous Genotype-Phenotype Associations in TRIO-Related Neurodevelopmental Disorder Revealed by Meta-AnalysisSemantic proximity Read ↗

A TALS-like<i>RTTN</i>mutation impedes neural rosette formation in human cortical organoidsSemantic proximity Read ↗

Modeling RTT Syndrome by iPSC-Derived Neurons from Male and Female Patients with Heterogeneously Severe Hot-Spot MECP2 Variants.Semantic proximity Read ↗

Whole-exome sequencing identifies homozygous mutation in TTI2 in a child with primary microcephaly: a case report.Semantic proximity Read ↗

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