Work

Understanding the molecular basis of short stature in six patients with pathogenic variants in HMGA2

Year: 2022

Type: conference-abstract

Source: Endocrine Abstracts

DOI: 10.1530/endoabs.85.p44

Authors: Avinaash Maharaj, Emily Cottrell, Duyvenvoorde Hermine van, Bruin Christiaan de, Sjoerd Joustra, Sarina Kant, der Kaay Danielle van, Castilla de Cortazar Larrea Maria Inmaculada, Ahmed Massoud, Louise Metherell, Vivian Hwa, Sabine Hombach-Klonisch, Thomas Klonisch, Helen Storr

Language: English

Topic: Genomics and Rare Diseases

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

Funder: Medical Research Council

Award: Antioxidant defence in adrenocortical cells

OpenAlex ID: W4306679396

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