A GLI3 variant leading to polydactyly in heterozygotes and Pallister‐Hall‐like syndrome in a homozygote-Reference-Cited by-同舟云学术

A GLI3 variant leading to polydactyly in heterozygotes and Pallister‐Hall‐like syndrome in a homozygote

Published:2020-03-10 Issue:6 Volume:97 Page:915-919
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Kariminejad Ariana¹^ORCID,Ghaderi‐Sohi Siavash¹,Keshavarz Elham²,Hashemi Seyed Abolghasem³,Parsimehr Elham¹,Szenker‐Ravi Emmanuelle⁴,Khatoo Muznah⁴,Faraji Zonooz Mehrshid¹,Reversade Bruno⁴,Najmabadi Hossein¹,Hennekam Raoul C.⁵

Affiliation:

1. Kariminejad‐Najmabadi Pathology & Genetics Center Tehran Iran

2. Department of Radiology, Mahdieh HospitalShahid Beheshti University of Medical Sciences Tehran Iran

3. Parsian Hospital Tehran Iran

4. Institute of Medical BiologyAgency for Science, Technology, and Research Singapore Singapore

5. Department of PediatricsAmsterdam UMC Amsterdam The Netherlands

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13730

Reference16 articles.

1. Gli2 and Gli3 Localize to Cilia and Require the Intraflagellar Transport Protein Polaris for Processing and Function

2. Case report and delineation of the congenital hypothalamic hamartoblastoma syndrome (Pallister-Hall syndrome)

3. Three additional cases of the congenital hypothalamic “hamartoblastoma” (Pallister-Hall) syndrome

4. Genetic mapping of an autosomal recessive postaxial polydactyly type A to chromosome 13q13.3–q21.2 and screening of the candidate genes

5. An Indian family with postaxial Polydactyly in four generations

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1. Identification of truncated variants in GLI family zinc finger 3 (GLI3) associated with polydactyly;Journal of Orthopaedic Surgery and Research;2024-07-30

2. Identification of truncated variants in GLI family zinc finger 3 (GLI3) associated with polydactyly;2024-04-24

3. Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population;npj Genomic Medicine;2024-02-19

4. Case Report: Identification of Polygenic Mutations by Exome Sequencing;Frontiers in Pediatrics;2021-10-21

5. Homozygous GLI3 variants observed in three unrelated patients presenting with syndromic polydactyly;American Journal of Medical Genetics Part A;2021-07-23