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

Identification of a novel homozygous TBC1D24 mutation in a Turkish family with DOORS syndrome.

Clinical dysmorphology - 1 Jan 2018

Atli Engin, Gurkan Hakan, Ulusal Selma, Karal Yasemin, Atli Emine I, Tozkir Hilmi

Abstract excerpt

No abstract is available from the source.

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 Child, Preschool
Share to Epilepsies, Myoclonic
Share to GTPase-Activating Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Membrane Proteins

Share to Nerve Tissue Proteins

Share to Pedigree

Share to Turkey

Source

Identifiers

PMID: 29176366
DOI: 10.1097/MCD.0000000000000204

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of a novel homozygous TBC1D24 mutation in a Turkish family with DOORS syndrome.PMID 29176366Read ↗

Case Report: Novel mutations in TBC1D24 are associated with autosomal dominant tonic-clonic and myoclonic epilepsy and recessive Parkinsonism, psychosis, and intellectual disabilitySemantic proximity Read ↗

The genetic basis of DOORS syndrome: an exome-sequencing study.Semantic proximity Read ↗

A Novel Homozygous TBC1D24 Mutation Causing Multifocal Myoclonus With Cerebellar Involvement.Semantic proximity Read ↗

Whole-exome sequencing identifies mutations of TBC1D1 encoding a Rab-GTPase-activating protein in patients with congenital anomalies of the kidneys and urinary tract (CAKUT).Semantic proximity Read ↗

Identification of a Novel TBCK Variation in an Azari Consanguineous Family With Psychomotor Developmental Disorder.Semantic proximity Read ↗

A Commentary on 'Four novel C20ORF54 mutations identified in Brown-Vialetto-Van Laere syndrome patients.'.Semantic proximity Read ↗

DOORS syndrome and a recurrent truncating ATP6V1B2 variant.Semantic proximity Read ↗

Novel variants in TBC1D24 associated with epilepsy and deafness: Report of two cases.Semantic proximity Read ↗

A novel homozygous frameshift mutation in the TUSC3 gene identified in siblings with intellectual disability.Semantic proximity Read ↗

DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome.Semantic proximity Read ↗

Inherited TOP2B Mutation: Possible Confirmation of Mutational Hotspots in the TOPRIM Domain.Semantic proximity Read ↗

A novel TGM1 splicing mutation in a collodion baby with cicatricial ectropion.Semantic proximity Read ↗

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