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

Temple-Baraitser syndrome with KCNH1 Asn510Thr: a new case report.

Clinical dysmorphology - 1 Jan 2021

Wang Hui, Zhang Xiaohua, Ding Hongfang

Abstract excerpt

Temple-Baraitser syndrome (TMBTS; OMIM: 611816) is a rare developmental disorder characterized by severe mental retardation and anomalies of thumb and great toe with absence/hypoplasia of the nails. Here, we report an additional patient with TMBTS, review clinical and radiological features of previously reported cases and discuss mode of inheritance. The patient exhibited a pattern of anomalies: mild dysmorphic...

Read the complete abstract on PubMed

Topics

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

Share to Amino Acid Substitution
Share to Electroencephalography
Share to Ether-A-Go-Go Potassium Channels

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Exome Sequencing

Share to Intellectual Disability

Share to Mutation, Missense

Share to Nails, Malformed

Source

Identifiers

PMID: 32956079
DOI: 10.1097/MCD.0000000000000345

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Temple-Baraitser syndrome with KCNH1 Asn510Thr: a new case report.PMID 32956079Read ↗

Patients with KCNH1-related intellectual disability without distinctive features of Zimmermann-Laband/Temple-Baraitser syndrome.Semantic proximity Read ↗

De novo KCNH1 mutations in four patients with syndromic developmental delay, hypotonia and seizures.Semantic proximity Read ↗

Potassium Voltage-Gated Channel Subfamily H Member 1 (KCNH1) Missense Mutation Causing Epileptic Encephalopathy And Autistic Behaviour.Semantic proximity Read ↗

<i>KCNH1</i> variants associated with neurodevelopmental disorders exhibit prominent gain-of-functionSemantic proximity Read ↗

Phenotypes of a toddler with hereditary sensory and autonomic neuropathy type IV: comparing with normal: A case report.Semantic proximity Read ↗

Identification of founder and novel mutations that cause congenital insensitivity to pain (CIP) in palestinian patients.Semantic proximity Read ↗

Genetic and phenotypic diversity of NHE6 mutations in Christianson syndrome.Semantic proximity Read ↗

Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3-a subgroup of K+ channelopathies.Semantic proximity Read ↗

Timothy syndrome-like condition with syndactyly but without prolongation of the QT interval.Semantic proximity Read ↗

Establishment and characterization of ZJUCHi003: an induced pluripotent stem cell line from a patient with Temple-Baraitser/Zimmermann-Laband syndrome carrying KCNH1 c.1070G > A (p.R357Q) variant.Semantic proximity Read ↗

Two cases of Nicolaides-Baraitser syndrome, one with a novel SMARCA2 variant.Semantic proximity Read ↗

Novel neuro-audiological findings and further evidence for TWNK involvement in Perrault syndrome.Semantic proximity Read ↗

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