Update on the Genetics of Hypopituitarism

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

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

Previous issue | Volume 17 | ESPEYB17 | Next issue

Yearbook of Paediatric Endocrinology 2020

1. Pituitary and Neuroendocrinology

Previous section
Matti Hero, Yafei Wang, Päivi J. Miettinen, Taneli Raivio

Table of contents

Next section
Hypopituitarism: Disease Modeling and New Discoveries

ey0017.1-1 | Update on the Genetics of Hypopituitarism

1.1. Impaired EIF2S3 function associated with a novel phenotype of X-linked hypopituitarism with glucose dysregulation

ey0017.1-2 | Update on the Genetics of Hypopituitarism

1.2. Mutations in MAGEL2 and L1CAM are associated with congenital hypopituitarism and arthrogryposis

ey0017.1-3 | Update on the Genetics of Hypopituitarism

1.3. Mutations in LAMB2 are associated with albuminuria and optic nerve hypoplasia with hypopituitarism

ey0017.1-4 | Update on the Genetics of Hypopituitarism

1.4. Loss-of-function variants in TBC1D32 underlie syndromic hypopituitarism

ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
© Bioscientifica 2025 | Privacy policy | Cookie settings

Bioscientifica Abstracts is the gateway to a series of products that provide a permanent, citable record of abstracts for biomedical and life science conferences.

Find out more

ESPE Yearbook of Paediatric Endocrinology