Fetal Hydrops, Hyperechogenic Arteries and Pathological Doppler Findings at 29 Weeks: Prenatal Prese...
Fetal Hydrops, Hyperechogenic Arteries and Pathological Doppler Findings at 29 Weeks: Prenatal Presentation of Generalized Arterial Calcification of Infancy – A Novel Mutation in ENPP1
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Author / Creator
Reitter, A. , Fischer, D. , Buxmann, H. , Nitschke, Y. , Rutsch, F. , Mottok, A. , Hansmann, M.L. , Harms, E. , Louwen, F. and Schlösser, R.
Publisher
Basel, Switzerland: Karger
Journal title
Language
English
Formats
Publication information
Publisher
Basel, Switzerland: Karger
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Scope and Contents
Contents
Prenatal diagnosis of generalized arterial calcification of infancy (GACI) (OMIM #208000) is difficult and rare. There are various known gene mutations in ENPP1 (ectonucleotide pyrophosphatase/phosphodiesterase 1) locus 6q22-q23. We present a case of suspected intrauterine diagnosis at 29 weeks of gestation in a consanguineous couple. The sonograph...
Alternative Titles
Full title
Fetal Hydrops, Hyperechogenic Arteries and Pathological Doppler Findings at 29 Weeks: Prenatal Presentation of Generalized Arterial Calcification of Infancy – A Novel Mutation in ENPP1
Authors, Artists and Contributors
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Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_20807452
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_20807452
Other Identifiers
ISSN
1015-3837
E-ISSN
1421-9964
DOI
10.1159/000223683
