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

A novel frameshift variant in proximal exon 18 of KAT6B gene associated with an overlapping genitopatellar/say barber Biesecker-Young-Simpson syndrome phenotype.

Clinical dysmorphology - 1 Oct 2021

Turkyilmaz Ayberk, Ozden Ayse

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 Blepharophimosis
Share to Congenital Hypothyroidism
Share to Exons
Share to Facies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heart Defects, Congenital

Share to Histone Acetyltransferases

Share to Intellectual Disability

Share to Joint Instability

Source

Identifiers

PMID: 34074951
DOI: 10.1097/MCD.0000000000000376

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel frameshift variant in proximal exon 18 of KAT6B gene associated with an overlapping genitopatellar/say barber Biesecker-Young-Simpson syndrome phenotype.PMID 34074951Read ↗

De Novo Mutation of KAT6B Gene Causing Atypical Say-Barber-Biesecker-Young-Simpson Syndrome or Genitopatellar Syndrome.Semantic proximity Read ↗

[Identification of a novel missense variant of the KAT6B gene in a child with Say-Barber-Biesecker-Young-Simpson syndrome].Semantic proximity Read ↗

Complex phenotypes blur conventional borders between Say-Barber-Biesecker-Young-Simpson syndrome and genitopatellar syndrome.Semantic proximity Read ↗

A novel truncating variant within exon 7 of KAT6B associated with features of both Say-Barber-Bieseker-Young-Simpson syndrome and genitopatellar syndrome: Further evidence of a continuum in the clinical spectrum of KAT6B-related disorders.Semantic proximity Read ↗

Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants.Semantic proximity Read ↗

Say-Barber-Biesecker-Young-Simpson syndrome and Genitopatellar syndrome: Lumping or splitting?Semantic proximity Read ↗

A Novel De Novo KAT6B Mutation Causes Hypospadias in a Chinese Fetus at 29 Weeks Gestation.Semantic proximity Read ↗

Further delineation of the KAT6B molecular and phenotypic spectrum.Semantic proximity Read ↗

A Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome with a KAT6B 10-base pair palindromic duplication: A recurrent mutation causing a severe phenotype mixed with genitopatellar syndrome.Semantic proximity Read ↗

A recurrent synonymous KAT6B mutation causes Say-Barber-Biesecker/Young-Simpson syndrome by inducing aberrant splicing.Semantic proximity Read ↗

A patient showing features of both SBBYSS and GPS supports the concept of a KAT6B-related disease spectrum, with mutations in mid-exon 18 possibly leading to combined phenotypes.Semantic proximity Read ↗

Clinical features and the genetic analysis of KAT6B-related diseases caused by a de novo mutation of the KAT6B gene c.621+1G>A.Semantic proximity Read ↗

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