A novel ZRS mutation in a Balochi tribal family with triphalangeal thumb, pre-axial polydactyly, post-axial polydactyly, and syndactyly
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference13 articles.
1. Identification of two novel mutations in Shh long-range regulator associated with familial pre-axial polydactyly;Albuisson;Clin Genet,2010
2. 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;Farooq;Eur J Hum Genet,2010
3. Two novel point mutations in the long-range SHH enhancer in three families with triphalangeal thumb and preaxial polydactyly;Gurnett;Am J Med Genet Part A,2007
4. A microduplication of the long range SHH limb regulator (ZRS) is associated with triphalangeal thumb-polysyndactyly syndrome;Klopocki;J Med Genet,2008
5. Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly;Lettice;Proc Natl Acad Sci USA,2002
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1. A large, ten‐generation family with autosomal dominant preaxial polydactyly/triphalangeal thumb: Historical, clinical, genealogical, and molecular studies;American Journal of Medical Genetics Part A;2022-10-29
2. Prenatal diagnosis of triphalangeal thumb-polysyndactyly syndrome by ultrasonography combined with genetic testing: A case report;World Journal of Clinical Cases;2021-08-16
3. Large duplication in LMBR1 gene in a large Chinese pedigree with triphalangeal thumb polysyndactyly syndrome;American Journal of Medical Genetics Part A;2020-07-14
4. Variable expression of subclinical phenotypes instead of reduced penetrance in families with mild triphalangeal thumb phenotypes;Journal of Medical Genetics;2020-03-16
5. Comprehensive In Vivo Interrogation Reveals Phenotypic Impact of Human Enhancer Variants;Cell;2020-03
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