New genes and gene mutations

ISSN 1662-4009 (online)

An indispensable reference tool endorsed by the European Society for Paediatric Endocrinology

Volume 15 | ESPEYB15 | Next issue

Yearbook of Paediatric Endocrinology 2018

5 Bone, Growth Plate and Mineral Metabolism

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New and repurposed therapies

Table of contents

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Towards evidence-based vitamin D supplementation

ey0015.5-3 | New genes and gene mutations

5.3 CYP3A4 mutation causes vitamin D-dependent rickets type 3

ey0015.5-4 | New genes and gene mutations

5.4 Mutations That Alter the Carboxy-Terminal-Propeptide Cleavage Site of the Chains of Type I Procollagen Are Associated With a Unique Osteogenesis Imperfecta Phenotype

ey0015.5-5 | New genes and gene mutations

5.5 Aggrecan Mutations in Nonfamilial Short Stature and Short Stature Without Accelerated Skeletal Maturation

ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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