A novel mutation (g.106737G>T) in zone of polarizing activity regulatory sequence (ZRS) causes variable limb phenotypes in Werner mesomelia-Reference-Cited by-同舟云学术

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A novel mutation (g.106737G>T) in zone of polarizing activity regulatory sequence (ZRS) causes variable limb phenotypes in Werner mesomelia

Published:2014-01-29 Issue:4 Volume:164 Page:898-906
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Girisha Katta M.¹,Bidchol Abdul Mueed¹,Kamath Preeti S.¹,Shah Krupa H.¹,Mortier Geert R.²,Mundlos Stefan³,Shah Hitesh⁴

Affiliation:

1. Division of Medical Genetics; Department of Pediatrics; Kasturba Medical College; Manipal University; Manipal India

2. Department of Medical Genetics; Antwerp University Hospital and University of Antwerp; Antwerp Belgium

3. Institut für Medizinische Genetik und Humangenetik; Charité Berlin Germany

4. Pediatric Orthopedics Services, Department of Orthopedics; Kasturba Medical College, Manipal University; Manipal India

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference30 articles.

1. Identification of two novel mutations in Shh long-range regulator associated with familial pre-axial polydactyly;Albuisson;Clin Genet,2011

2. A novel mutation in the SHH long-range regulator (ZRS) is associated with preaxial polydactyly, triphalangeal thumb, and severe radial ray deficiency;Al-Qattan;Am J Med Genet Part A,2012

3. Genetic heterogeneity in type III familial cutaneous syndactyly and linkage to chromosome 7q36;Al-Qattan;Am J Med Genet Part A,2013

4. Human limb abnormalities caused by disruption of hedgehog signaling;Anderson;Trends Genet,2012

5. Tibial hemimelia-polydactyly-five-fingered hand syndrome associated with a 404 G>A mutation in a distant sonic hedgehog cis-regulator (ZRS): A case report;Cho;J Pediatr Orthop B,2013

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1. The First Patient with Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome Caused by De Novo c.423+4916 T>C ZRS Variant: A Case Report;International Journal of Molecular Sciences;2024-08-29

2. Normal and five-fingered hand: comparative X-ray morphometry in the post-natal age;Folia Morphologica;2021-05-31

3. Variable expression of subclinical phenotypes instead of reduced penetrance in families with mild triphalangeal thumb phenotypes;Journal of Medical Genetics;2020-03-16

4. Comprehensive In Vivo Interrogation Reveals Phenotypic Impact of Human Enhancer Variants;Cell;2020-03

5. Nosology and classification of genetic skeletal disorders: 2019 revision;American Journal of Medical Genetics Part A;2019-10-21

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