A 235 Kb deletion at 17q21.33 encompassing the COL1A1 , and two additional secondary copy number variants in an infant with type I osteogenesis imperfecta: A rare case report-Reference-Cited by-同舟云学术

A 235 Kb deletion at 17q21.33 encompassing the COL1A1 , and two additional secondary copy number variants in an infant with type I osteogenesis imperfecta: A rare case report

Published:2020-04-13 Issue:6 Volume:8 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Numbere Numbereye¹,Weber David R.²,Porter George³,Iqbal Mohammed A.¹

Affiliation:

1. Department of Pathology and Laboratory Medicine University of Rochester Medical Center Rochester NY USA

2. Pediatric Endocrinology Department of Pediatrics University of Rochester Medical Center Rochester NY USA

3. Pediatric Cardiology Department of Pediatrics University of Rochester Medical Center Rochester NY USA

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1241

Reference21 articles.

1. Lgmd2d syndrome: The importance of clinical and molecular genetics in patient and family management;Al‐Harbi K. H.;Neuroendocrinology Letters,2016

2. Homozygous ?-sarcoglycan mutation in two siblings: One asymptomatic and one steroid-responsive mild limb-girdle muscular dystrophy patient

3. Osteogenesis Imperfecta Type I Caused by COL1A1 Deletions

4. Homozygosity for a Missense Mutation in SERPINH1, which Encodes the Collagen Chaperone Protein HSP47, Results in Severe Recessive Osteogenesis Imperfecta

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