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
Diverse monogenic subforms of human spermatogenic failure.
Nagirnaja L et al.
Nature Communications, 2022
36572685 (PubMed )
Supplement: 41467_2022_35661_MOESM3_ESM.xlsx › Supplementary_Data_1
Nonlethal presentations of CYP26B1-related skeletal anomalies and multiple synostoses syndrome.
Grand K et al.
American Journal of Medical Genetics. Part A, 2021
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
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