Related references
Note: Only part of the references are listed.Identification of two novel mutations in Shh long-range regulator associated with familial pre-axial polydactyly
J. Albuisson et al.
CLINICAL GENETICS (2011)
cis-Regulatory Mutations Are a Genetic Cause of Human Limb Malformations
Julia E. VanderMeer et al.
DEVELOPMENTAL DYNAMICS (2011)
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
Muhammad Farooq et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2010)
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
Dagmar Wieczorek et al.
HUMAN MUTATION (2010)
Homozygous feature of isolated triphalangeal thumb-preaxial polydactyly linked to 7q36: no phenotypic difference between homozygotes and heterozygotes
C. N. Semerci et al.
CLINICAL GENETICS (2009)
Canine polydactyl mutations with heterogeneous origin in the conserved intronic sequence of LMBR1
Kiyun Park et al.
GENETICS (2008)
A microduplication of the long range SHH limb regulator (ZRS) is associated with triphalangeal thumb-polysyndactyly syndrome
E. Klopocki et al.
JOURNAL OF MEDICAL GENETICS (2008)
Triphalangeal thumb-polysyndactyly syndrome and syndactyly type IV are caused by genomic duplications involving the long range, limb-specific SHH enhancer
M. Sun et al.
JOURNAL OF MEDICAL GENETICS (2008)
Two novel point mutations in the long-range SHH enhancer in three families with triphalangeal thumb and preaxial polydactyly
Christina A. Gurnett et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2007)
Elimination of a long-range cis-regulatory module causes complete loss of limb-specific Shh expression and truncation of the mouse limb
T Sagai et al.
DEVELOPMENT (2005)
A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly
LA Lettice et al.
HUMAN MOLECULAR GENETICS (2003)
Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly
LA Lettice et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2002)
Share Paper
