A novel missense variant in the GLI3 zinc finger domain in a family with digital anomalies-Reference-Cited by-同舟云学术

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A novel missense variant in the GLI3 zinc finger domain in a family with digital anomalies

Published:2017-09-08 Issue:12 Volume:173 Page:3221-3225
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Crapster J. Aaron¹^ORCID,Hudgins Louanne²,Chen James K.¹³,Gomez-Ospina Natalia²

Affiliation:

1. Department of Chemical and Systems Biology; Stanford University School of Medicine; Stanford California

2. Division of Medical Genetics; Stanford University School of Medicine; Stanford California

3. Department of Developmental Biology; Stanford University School of Medicine; Stanford California

Funder

National Institutes of Health

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference14 articles.

1. The clinical atlas of greig cephalopolysyndactyly syndrome;Balk;American Journal of Medical Genetics Part A,2008

2. What you can learn from one gene: Gli3;Biesecker;Journal of Medical Genetics,2006

3. New insights into genotype-phenotype correlation for gli3 mutations;Demurger;European Journal of Human Genetics,2015

4. Handbook of Physical Measurements

5. Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly-a new syndrome? Part i: Clinical, causal, and pathogenetic considerations;Hall;American Journal of Medical Genetics,1980

Cited by 8 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A novel missense variant located within the zinc finger domain of the GLI3 gene was identified in a Vietnamese pedigree with index finger polydactyly;Molecular Genetics & Genomic Medicine;2024-06

2. Targeting the Cysteine Redox Proteome in Parkinson’s Disease: The Role of Glutathione Precursors and Beyond;Antioxidants;2023-06-30

3. Truncating and zinc‐finger variants in GLI2 are associated with hypopituitarism;American Journal of Medical Genetics Part A;2021-12-17

4. Identification of novel missense mutations associated with non-syndromic syndactyly in two vietnamese trios by whole exome sequencing;Clinica Chimica Acta;2020-07

5. Variant type and position predict two distinct limb phenotypes in patients with GLI3-mediated polydactyly syndromes;Journal of Medical Genetics;2020-06-26

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