Genetics

ISSN 1662-4009 (online)

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Yearbook of Paediatric Endocrinology 2022

1. Pituitary and Neuroendocrinology

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Basic Science and Stem Cells

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Clinical Papers

ey0019.1-5 | Genetics

1.5. Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism

ey0019.1-6 | Genetics

1.6. High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency

ey0019.1-7 | Genetics

1.7. Pathogenic variants in RNPC3 are associated with hypopituitarism and primary ovarian insufficiency

ey0019.1-8 | Genetics

1.8. Intronic variant in POU1F1 associated with canine pituitary dwarfism

ey0019.1-9 | Genetics

1.9. Uncertain, Not Unimportant: Callosal Dysgenesis and Variants of Uncertain Significance in ROBO1

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