A new case of Greenberg dysplasia and literature review suggest that Greenberg dysplasia, dappled diaphyseal dysplasia, and Astley–Kendall dysplasia are allelic disorders-Reference-Cited by-同舟云学术

A new case of Greenberg dysplasia and literature review suggest that Greenberg dysplasia, dappled diaphyseal dysplasia, and Astley–Kendall dysplasia are allelic disorders

Published:2020-04-18 Issue:6 Volume:8 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Gregersen Pernille A.¹²³^ORCID,McKay Victoria⁴,Walsh Maie³⁵,Brown Erica⁶,McGillivray George³⁶⁷,Savarirayan Ravi³⁷

Affiliation:

1. Department of Clinical Genetics Aarhus University Hospital Aarhus Denmark

2. Pediatrics and Adolescent Medicine Centre for Rare Diseases Aarhus University Hospital Aarhus Denmark

3. Victorian Clinical Genetics Services The Royal Children’s Hospital Melbourne VIC Australia

4. Department of Clinical Genetics Merseyside and Cheshire Regional Clinical Genetics Service Liverpool Women’s NHS Foundation Trust Liverpool UK

5. Victorian Clinical Genetics Services Royal Melbourne Hospital Melbourne VIC Australia

6. Victorian Clinical Genetics Services Royal Women’s Hospital Melbourne VIC Australia

7. Murdoch Children’s Research Institute University of Melbourne Parkville VIC Australia

Funder

Royal Women's Hospital

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1173

Reference24 articles.

1. A bone dysplasia for diagnosis;Astley R.;Annales De Radiologie (Paris),1980

2. Nosology and classification of genetic skeletal disorders: 2015 revision

3. Pelger-huet anomaly and a mild skeletal phenotype secondary to mutations inLBR

4. Mutations in the gene encoding 3β- hydroxysteroid-Δ8,Δ7- isomerase cause X-linked dominant Conradi-Hünermann syndrome

5. Dappled diaphyseal dysplasias

Cited by 2 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. Prenatal diagnosis of recurrent moderate skeletal dysplasias in lamin B receptors;Frontiers in Genetics;2023-01-13

2. Fetal Flat-Facies on Prenatal Ultrasound: Is it Chondrodysplasia Punctata? A Retrospective Chart Review of 62 Fetuses;Journal of Fetal Medicine;2022-04-20