Neonatal mucolipidosis type II alpha/beta due to compound heterozygosity for a known and novel
Publication/Presentation Date
4-1-2017
Abstract
We report on a newborn with IUGR, rhizomelic dwarfism, and suspected chondrodysplasia punctata. At birth, OI was suspected; however, a skeletal survey suggested ML II alpha/beta. Sequencing revealed compound heterozygosity for a reported pathogenic and novel but expected pathogenic
Volume
5
Issue
4
First Page
431
Last Page
434
ISSN
2050-0904
Published In/Presented At
Wood, K. A., Zambrano, R. M., Cheek, B. J., Arcement, C., Haymon, M., Steinkampf, J., Sampath, S., Hyland, J. C., & Lacassie, Y. (2017). Neonatal mucolipidosis type II alpha/beta due to compound heterozygosity for a known and novel GNPTAB mutation, and a concomitant heterozygous change in SERPINF1 inherited from the mother. Clinical case reports, 5(4), 431–434. https://doi.org/10.1002/ccr3.835
Disciplines
Medicine and Health Sciences
PubMedID
28396763
Department(s)
Department of Pathology and Laboratory Medicine
Document Type
Article