Associated Papers
A Rare Craniosynostosis Phenotype Associated With a Homozygous CYP26B1 Pathogenic Variant in the Absence of Extremity Synostosis.
Caliskan BO et al.
American Journal of Medical Genetics. Part A, 2026
CYP26B1-related disorder: expanding the ends of the spectrum through clinical and molecular evidence.
Silveira KC et al.
Human Genetics, 2023
Familial monoallelic CYP26B1 truncating variant causes a syndromic craniosynostosis due to haploinsufficiency ?
Sarma AS et al.
European Journal of Medical Genetics, 2023
Nonlethal presentations of CYP26B1-related skeletal anomalies and multiple synostoses syndrome.
Grand K et al.
American Journal of Medical Genetics. Part A, 2021
Bones in human CYP26B1 deficiency and rats with hypervitaminosis A phenocopy Vegfa overexpression.
Lind T et al.
Bone Reports, 2018
Mucopolysaccharidosis IIIB and mild skeletal anomalies: coexistence of NAGLU and CYP26B1 missense variations in the same patient in a Chinese family.
Li J et al.
Bmc Medical Genetics, 2018
Biallelic mutations in CYP26B1: A differential diagnosis for Pfeiffer and Antley-Bixler syndromes.
Morton JE et al.
American Journal of Medical Genetics. Part A, 2016
Craniosynostosis and multiple skeletal anomalies in humans and zebrafish result from a defect in the localized degradation of retinoic acid.
Laue K et al.
American Journal of Human Genetics, 2011
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