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

KMT2D p.Gln3575His segregating in a family with autosomal dominant choanal atresia strengthens the Kabuki/CHARGE connection.

American journal of medical genetics. Part A - 1 Jan 2017

Badalato Lauren, Farhan Sali M K, Dilliott Allison A, Bulman Dennis E, Hegele Robert A, Goobie Sharan L

Abstract excerpt

Choanal atresia is rarely reported in Kabuki syndrome, but is a common feature of CHARGE syndrome. Otherwise, the two conditions have a number of overlapping features, and the molecular links between them have recently been elucidated. Here, we report a case of a mother and her two children who presented with congenital choanal atresia. We performed whole exome sequencing on DNA from the mother and her two...

Read the complete abstract on PubMed

Topics

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

Share to CHARGE Syndrome
Share to Chromosomes, Human, Pair 22

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Diagnostic Imaging

Share to Facies

Share to Hematologic Diseases

Share to Vestibular Diseases

Source

Identifiers

PMID: 27991736
DOI: 10.1002/ajmg.a.38010

Variants

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

KMT2D p.Gln3575His segregating in a family with autosomal dominant choanal atresia strengthens the Kabuki/CHARGE connection.PMID 27991736Read ↗

CHARGE syndrome in the era of molecular diagnosis: Similar outcomes in those without coloboma or choanal atresia.Semantic proximity Read ↗

[CHARGE syndrome in children with congenital choanal atresia].Semantic proximity Read ↗

Refining the clinical phenotype associated with missense variants in exons 38 and 39 of KMT2D.Semantic proximity Read ↗

Gastrointestinal and feeding difficulties in CHARGE syndrome: A review from head-to-toe.Semantic proximity Read ↗

Congenital Myasthenic Syndrome: Long-Term Outcomes up to 60 Years, Molecular Characterization, and Eight Novel Variants.Semantic proximity Read ↗

Syndromic congenital diarrhoea: new SPINT2 mutation identified in the UAE.Semantic proximity Read ↗

KMT2D-related disorder with a restricted spectrum distinct from Kabuki syndrome: A rare case report describing male twins in Taiwan and a literature review.Semantic proximity Read ↗

Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort.Semantic proximity Read ↗

A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome.Semantic proximity Read ↗

Variants of SLC18A3 leading to congenital myasthenic syndrome in two children with varying presentations.Semantic proximity Read ↗

Novel Variants in KMT2C Further Support a Neurodevelopmental Disorder Distinct From Kleefstra and Kabuki Syndromes.Semantic proximity Read ↗

Genotypic and phenotypic spectrum of congenital myasthenic syndrome: Insights from Southeastern Türkiye.Semantic proximity Read ↗

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