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 Rare Craniosynostosis Phenotype Associated With a Homozygous CYP26B1 Pathogenic Variant in the Absence of Extremity Synostosis.

American journal of medical genetics. Part A - 1 Feb 2026

Caliskan Busra Ozguc, Demir Mikail, Oktem Suat, Ozturk Selcan, Canpolat Mehmet, Dundar Munis

Abstract excerpt

CYP26B1, a member of the cytochrome P450 enzyme family, is one of the enzymes responsible for the inactivation of retinoic acid. Pathogenic variants in genes involved in endogenous retinoic acid production and control can result in craniofacial disorders and extremity abnormalities. The patient was referred due to craniosynostosis and dysmorphic appearance at the age of 3 years. Clinical exome sequencing showed a...

Read the complete abstract on PubMed

Topics

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

Share to Child, Preschool
Share to Craniosynostoses

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Exome Sequencing

Share to Homozygote

Share to Mutation, Missense

Share to Phenotype

Share to Synostosis

Source

Identifiers

PMID: 40999913
DOI: 10.1002/ajmg.a.64257

Genes

CYP26B1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A Rare Craniosynostosis Phenotype Associated With a Homozygous CYP26B1 Pathogenic Variant in the Absence of Extremity Synostosis.PMID 40999913Read ↗

Nonlethal presentations of CYP26B1-related skeletal anomalies and multiple synostoses syndrome.Semantic proximity Read ↗

Biallelic mutations in CYP26B1: A differential diagnosis for Pfeiffer and Antley-Bixler syndromes.Semantic proximity Read ↗

Familial monoallelic CYP26B1 truncating variant causes a syndromic craniosynostosis due to haploinsufficiency ?Semantic proximity Read ↗

CYP26B1-related disorder: expanding the ends of the spectrum through clinical and molecular evidenceSemantic proximity Read ↗

Expansion of the mutational spectrum of BMPER leading to diaphanospondylodysostosis and description of the associated disease process.Semantic proximity Read ↗

Acromesomelic Dysplasia With Homozygosity for a Likely Pathogenic BMPR1B Variant: Postaxial Polydactyly as a Novel Clinical Finding.Semantic proximity Read ↗

Craniosynostosis syndromes: from genes to premature fusion of skull bones.Semantic proximity Read ↗

Craniosynostosis as a clinical and diagnostic problem: molecular pathology and genetic counseling.Semantic proximity Read ↗

Rodriguez acrofacial dysostosis is caused by apparently de novo heterozygous mutations in the SF3B4 gene.Semantic proximity Read ↗

A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9.Semantic proximity Read ↗

Spectrum of Antley-Bixler syndrome.Semantic proximity Read ↗

Unraveling the Genetic Basis of Congenital Limb Anomalies in Eight Families.Semantic proximity Read ↗

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