Associated Papers
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
Enhancers: bridging the gap between gene control and human disease.
Karnuta JM et al.
Human Molecular Genetics, 2018
Identity-by-descent refines mapping of candidate regions for preaxial polydactyly II /III in a large Chinese pedigree.
Yang X et al.
Hereditas, 2018
28690477 (PubMed )
Supplement: 41065_2017_40_MOESM4_ESM.xlsx › Sheet1
Advances in the molecular genetics of non-syndromic polydactyly.
Deng H et al.
Expert Reviews in Molecular Medicine, 2015
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
Genetic screening of 202 individuals with congenital limb malformations and requiring reconstructive surgery.
Furniss D et al.
Journal of Medical Genetics, 2009
A variant in the sonic hedgehog regulatory sequence (ZRS) is associated with triphalangeal thumb and deregulates expression in the developing limb.
Furniss D et al.
Human Molecular Genetics, 2008
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