Associated Papers
Enhancer Poising Enables Pathogenic Gene Activation by Noncoding Variants.
Hollingsworth EW et al.
Biorxiv : the Preprint Server for Biology, 2025
Affinity-optimizing enhancer variants disrupt development.
Lim F et al.
Nature, 2024
38233525 (PubMed )
Supplement: 41586_2023_6922_MOESM8_ESM.docx
Rapid and Quantitative Functional Interrogation of Human Enhancer Variant Activity in Live Mice.
Hollingsworth EW et al.
Biorxiv : the Preprint Server for Biology, 2023
Genetics of congenital anomalies of the hand.
Kyriazis Z et al.
World Journal of Orthopedics, 2022
Variable expression of subclinical phenotypes instead of reduced penetrance in families with mild triphalangeal thumb phenotypes.
Potuijt JWP et al.
Journal of Medical Genetics, 2020
Mutations in gene regulatory elements linked to human limb malformations.
Nowosad K et al.
Journal of Medical Genetics, 2020
Zone of Polarizing Activity Regulatory Sequence Mutations/Duplications with Preaxial Polydactyly and Longitudinal Preaxial Ray Deficiency in the Phenotype: A Review of Human Cases, Animal Models, and Insights Regarding the Pathogenesis.
Al-Qattan MM
Biomed Research International, 2018
ZRS 406A>G mutation in patients with tibial hypoplasia, polydactyly and triphalangeal first fingers.
Norbnop P et al.
Journal of Human Genetics, 2014
Confirmation of genetic homogeneity of syndactyly type IV and triphalangeal thumb-polysyndactyly syndrome in a Chinese family and review of the literature.
Dai L et al.
European Journal of Pediatrics, 2013
A specific mutation in the distant sonic hedgehog (SHH) cis-regulator (ZRS) causes Werner mesomelic syndrome (WMS) while complete ZRS duplications underlie Haas type polysyndactyly and preaxial polydactyly (PPD) with or without triphalangeal thumb.
Wieczorek D et al.
Human Mutation, 2010
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