Unusually severe phenotype of neonatal primary hyperparathyroidism due to a heterozygous inactivatin...
Unusually severe phenotype of neonatal primary hyperparathyroidism due to a heterozygous inactivating mutation in the CASR gene
About this item
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Author / Creator
Publisher
Berlin/Heidelberg: Springer-Verlag
Journal title
Language
English
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Publication information
Publisher
Berlin/Heidelberg: Springer-Verlag
Subjects
More information
Scope and Contents
Contents
We present a male patient with neonatal severe primary hyperparathyroidism, whose manifestation was exceptionally serious for the heterozygous inactivating mutation he carried in the
CASR
gene. The patient presented soon after birth with respiratory distress requiring long-term mechanical ventilation, bone and chest deformities, feeding probl...
Alternative Titles
Full title
Unusually severe phenotype of neonatal primary hyperparathyroidism due to a heterozygous inactivating mutation in the CASR gene
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Record Identifier
TN_cdi_proquest_miscellaneous_67040497
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_67040497
Other Identifiers
ISSN
0340-6199
E-ISSN
1432-1076
DOI
10.1007/s00431-008-0794-y
