A rapid screening of a recurrent CYP24A1 pathogenic variant opens the way to molecular testing for Idiopathic Infantile Hypercalcemia (IIH)-Reference-Cited by-同舟云学术

A rapid screening of a recurrent CYP24A1 pathogenic variant opens the way to molecular testing for Idiopathic Infantile Hypercalcemia (IIH)

Published:2018-07 Issue: Volume:482 Page:8-13
ISSN:0009-8981
Container-title:Clinica Chimica Acta
language:en
Short-container-title:Clinica Chimica Acta

Author:

De Paolis Elisa,Minucci Angelo,De Bonis Maria,Scaglione Giovanni Luca,Gervasoni Jacopo,Primiano Aniello,Ferraro Pietro Manuel,Cappellani Daniele,Marcocci Claudio,Gambaro Giovanni,Capoluongo Ettore^ORCID

Publisher

Elsevier BV

Subject

Biochemistry (medical),Clinical Biochemistry,Biochemistry,General Medicine

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5. Clinical and biochemical phenotypes of adults with monoallelic and biallelic CYP24A1 mutations: evidence of gene dose effect;O'Keeffe;Osteoporos. Int.,2016

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