Further evidence for causation of ischiospinal dysostosis by a pathogenic variant in BMPER and expansion of the phenotype-Reference-Cited by-同舟云学术

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Further evidence for causation of ischiospinal dysostosis by a pathogenic variant in BMPER and expansion of the phenotype

Published:2018-05-16 Issue:1 Volume:59 Page:26-27
ISSN:0914-3505
Container-title:Congenital Anomalies
language:en
Short-container-title:Congenit Anom

Author:

Salian Smrithi¹,Nampoothiri Sheela²,Shukla Anju¹^ORCID,Girisha Katta M.¹^ORCID

Affiliation:

1. Department of Medical Genetics; Kasturba Medical College, Manipal Academy of Higher Education; Manipal India

2. Department of Pediatric Genetics; Amrita Institute of Medical Sciences and Research Centre; Cochin India

Funder

Indian Council of Medical Research

Publisher

Wiley

Subject

Developmental Biology,Embryology,General Medicine,Pediatrics, Perinatology, and Child Health

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/cga.12285/fullpdf

Reference7 articles.

1. BMPER mutation in diaphanospondylodysostosis identified by ancestral autozygosity mapping and targeted high-throughput sequencing;Funari;Am J Hum Genet,2010

2. Extending the phenotype of BMPER-related skeletal dysplasias to ischiospinal dysostosis;Kuchinskaya;Orphanet J Rare Dis,2016

3. Diaphanospondylodysostosis and ischiospinal dysostosis, evidence for one disorder with variable expression in a patient who has survived to age 9 years;Legare;Am J Med Genet A,2017

4. Ischio-spinal dysostosis: a previously unrecognised combination of malformations;Nishimura;Pediatr Radiol,1999

5. Ischiospinal dysostosis with cystic kidney disease: report of two cases;Nishimura;Clin Dysmorphol,2003

Cited by 4 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. Further evidence for attenuated phenotype with variants in the BMPER gene causing DSD: Case report and literature review;European Journal of Medical Genetics;2022-04

2. Successfully Managed Respiratory Insufficiency in a Patient with a Novel Pathogenic Variant of the BMPER Gene: A Case Report;Diagnostics;2022-03-03

3. Expansion of the mutational spectrum of BMPER leading to diaphanospondylodysostosis and description of the associated disease process;Molecular Genetics & Genomic Medicine;2021-07-20

4. Phenotyping and genotyping of skeletal dysplasias: Evolution of a center and a decade of experience in India;Bone;2019-03

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