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Article

Nonlethal presentations of CYP26B1-related skeletal anomalies and multiple synostoses syndrome.

American journal of medical genetics. Part A - 1 Sept 2021

Grand Katheryn, Skraban Cara M, Cohen Jennifer L, Dowsett Leah, Mazzola Sarah, Tarpinian Jennifer, Bedoukian Emma, Nesbitt Addie, Denenberg Beth, Lulis Lauren, Santani Avni, Zackai Elaine H, Deardorff Matthew A

Abstract excerpt

Retinoic acid exposures as well as defects in the retinoic acid-degrading enzyme CYP26B1 have teratogenic effects on both limb and craniofacial skeleton. An initial report of four individuals described a syndrome of fetal and infantile lethality with craniosynostosis and skeletal anomalies caused by homozygous pathogenic missense variants in CYP26B1. In contrast, a 22-year-old female was reported with a...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 34160123
DOI: 10.1002/ajmg.a.62387

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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.

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