Familial monoallelic CYP26B1 truncating variant causes a syndromic craniosynostosis due to haploinsufficiency ?
Author:
Funder
Department of Biotechnology, Ministry of Science and Technology, India
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics,General Medicine
Reference9 articles.
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3. Nonlethal presentations of CYP26B1-related skeletal anomalies and multiple synostoses syndrome;Grand;Am. J. Med. Genet.,2021
4. Genome aggregation database consortium, rehm HL, MacArthur DG, O'Donnell-luria A. Variant interpretation using population databases: lessons from gnomAD;Gudmundsson;Hum. Mutat.,2022
5. Restriction of retinoic acid activity by Cyp26b1 is required for proper timing and patterning of osteogenesis during zebrafish development;Laue;Development,2008
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1. CYP26B1-related disorder: expanding the ends of the spectrum through clinical and molecular evidence;Human Genetics;2023-09-27
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