Compound heterozygous mutations in COL1A1 associated with an atypical form of type I osteogenesis imperfecta-Reference-Cited by-同舟云学术

Compound heterozygous mutations in COL1A1 associated with an atypical form of type I osteogenesis imperfecta

Published:2017-04-24 Issue:7 Volume:173 Page:1907-1912
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Ackermann Amanda M.¹^ORCID,Levine Michael A.¹

Affiliation:

1. Division of Endocrinology and Diabetes, Children's Hospital of Philadelphia and Department of Pediatrics; Perelman School of Medicine of the University of Pennsylvania; Philadelphia Pennsylvania

Funder

Juvenile Diabetes Research Foundation

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference25 articles.

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2. Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in the COL1A1 and COL1A2 genes of type I collagen;Byers;American Journal of Medical Genetics,1997

3. Y-position cysteine substitution in type I collagen (alpha1(I) R888C/p.R1066C) is associated with osteogenesis imperfecta/Ehlers-Danlos syndrome phenotype;Cabral;Human Mutation,2007

4. Dalgleish , R. 2015

5. The Ehlers-Danlos syndrome, a disorder with many faces;De Paepe;Clinical Genetics,2012

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4. Reproductive options for families at risk of Osteogenesis Imperfecta: a review;Orphanet Journal of Rare Diseases;2020-05-27

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