Antenatal diagnostic dilemma in a pseudodominant pedigree with lamin‐ B receptor ( LBR )‐related regressive spondylometaphyseal dysplasia-Reference-Cited by-同舟云学术

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Antenatal diagnostic dilemma in a pseudodominant pedigree with lamin‐ B receptor ( LBR )‐related regressive spondylometaphyseal dysplasia

Published:2021-08-31 Issue:1 Volume:188 Page:253-258
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Turgut Gozde Tutku¹,Güleç Çağrı¹,Sarac Sivrikoz Tugba²,Kale Hamdi¹,Karaman Birsen¹³,Nishimura Gen⁴,Altunoglu Umut¹⁵^ORCID

Affiliation:

1. Department of Medical Genetics, Istanbul Medical Faculty Istanbul University Istanbul Turkey

2. Department of Obstetrics and Gynecology, Division of Perinatology, Istanbul Medical Faculty Istanbul University Istanbul Turkey

3. Department of Pediatric Basic Sciences Institute of Child Health, Istanbul University Istanbul Turkey

4. Center for Intractable Diseases Saitama Medical University Hospital Saitama Japan

5. Department of Medical Genetics Koc University School of Medicine (KUSOM) Istanbul Turkey

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62479

Reference21 articles.

1. Lamin B-receptor mutations in Pelger-Huët anomaly

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

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

4. Homozygous form of the Pelger‐Huët anomaly;Erice J. G.;Haematologica,1999

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

Cited by 1 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. Natural history and genetic spectrum of the Turkish metaphyseal dysplasia cohort, including rare types caused by biallelic COL10A1, COL2A1, and LBR variants;Bone;2023-02

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