Identification of two novel mutations in Shh long-range regulator associated with familial pre-axial polydactyly

Preaxial polydactyly/triphalangeal thumb is associated with changed transcription factor-binding affinity in a family with a novel point mutation in the long-range cis-regulatory element ZRS

(2010) Muhammad Farooq et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Genomic Regions Associated with Dermal Hyperpigmentation, Polydactyly and Other Morphological Traits in the Silkie Chicken

(2010) B. Dorshorst et al.   JOURNAL OF HEREDITY

A ZRS duplication causes syndactyly type IV with tibial hypoplasia

(2009) Lingqian Wu et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Homozygous feature of isolated triphalangeal thumb-preaxial polydactyly linked to 7q36: no phenotypic difference between homozygotes and heterozygotes

(2009) CN Semerci et al.   CLINICAL GENETICS

HnRNP U mediates the long-range regulation of Shh expression during limb development

(2009) Jing Zhao et al.   HUMAN MOLECULAR GENETICS

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

(2009) Dagmar Wieczorek et al.   HUMAN MUTATION

Genetic screening of 202 individuals with congenital limb malformations and requiring reconstructive surgery

(2009) D Furniss et al.   JOURNAL OF MEDICAL GENETICS

Chromosomal Dynamics at the Shh Locus: Limb Bud-Specific Differential Regulation of Competence and Active Transcription

(2008) Takanori Amano et al.   DEVELOPMENTAL CELL

Mutation analysis of a large Chinese pedigree with congenital preaxial polydactyly

(2008) Hui Li et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Canine Polydactyl Mutations With Heterogeneous Origin in the Conserved Intronic Sequence of LMBR1

(2008) K. Park et al.   GENETICS

A regulatory module embedded in the coding region of Hoxa2 controls expression in rhombomere 2

(2008) S. Tumpel et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA