Open AccessMutations in COL1A1 and COL27A1 Associated with a Pectus Excavatum Phenotype in 2 Siblings with Osteogenesis Imperfecta
Author(s) -
Nelimar Cruz-Centeno,
Jean F. Saenz-Maisonet,
Paola M. López-Dones,
Alberto Santiago-Cornier,
Victor N. Ortiz-Justiniano
Publication year - 2022
Publication title -
american journal of case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.247
H-Index - 18
ISSN - 1941-5923
DOI - 10.12659/ajcr.935526
Subject(s) - osteogenesis imperfecta , pectus excavatum , medicine , haploinsufficiency , phenotype , compound heterozygosity , genetics , pathology , surgery , gene , biology
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