ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica
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Yearbook of Paediatric Endocrinology 2019

5. Bone, Growth Plate and Mineral Metabolism

New Insight into Rare Skeletal Disorders

Previous section
New Therapies and Novel Therapeutic Strategies
Table of contents
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Clinical Advances in Treatment

ey0016.5-4 | New Insight into Rare Skeletal Disorders

5.4. Vitamin D-binding protein deficiency and homozygous deletion of the GC gene

ey0016.5-5 | New Insight into Rare Skeletal Disorders

5.5. Osteoporosis and skeletal dysplasia caused by pathogenic variants in SGMS2

ey0016.5-6 | New Insight into Rare Skeletal Disorders

5.6. Gain-of-function mutation of microRNA-140 in human skeletal dysplasia

ey0016.5-7 | New Insight into Rare Skeletal Disorders

5.7. Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions

Published by BioScientifica

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