A novel case of Greenberg dysplasia and genotype–phenotype correlation analysis for LBR pathogenic variants: An instructive example of one gene‐multiple phenotypes-Reference-Cited by-同舟云学术

A novel case of Greenberg dysplasia and genotype–phenotype correlation analysis for LBR pathogenic variants: An instructive example of one gene‐multiple phenotypes

Published:2018-12-18 Issue:2 Volume:179 Page:306-311
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet Part A

Author:

Giorgio Elisa¹,Sirchia Fabio²,Bosco Martino³,Sobreira Nara Lygia M.⁴⁵,Grosso Enrico⁶,Brussino Alessandro¹,Brusco Alfredo¹⁶^ORCID,

Affiliation:

1. Department of Medical SciencesUniversity of Torino Torino Italy

2. Institute for Maternal and Child HealthIRCCS “Burlo Garofolo” Trieste Italy

3. Pathological Anatomy and Histology UnitSan Lazzaro Hospital Alba Italy

4. McKusick‐Nathans Institute of Genetic MedicineJohns Hopkins University School of Medicine Baltimore Maryland

5. Department of PediatricsJohns Hopkins University School of Medicine Baltimore Maryland

6. Medical Genetics UnitCittà della Salute e della Scienza University Hospital Torino Italy

Funder

National Heart, Lung, and Blood Institute

Fondazione Umberto Veronesi

National Eye Institute

National Human Genome Research Institute

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61000

Reference27 articles.

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

2. MKS3/TMEM67mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement

3. Predicting the Functional Effect of Amino Acid Substitutions and Indels

4. Mutations causing Greenberg dysplasia but not Pelger anomaly uncouple enzymatic from structural functions of a nuclear membrane protein

5. The lamin B receptor under transcriptional control of C/EBPε is required for morphological but not functional maturation of neutrophils

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