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Published in 2023 at "Endocrine connections"
DOI: 10.1530/ec-22-0473
Abstract: CONTEXT Congenital hypopituitarism is a genetically heterogeneous condition. Whole exome sequencing (WES) is a promising approach for molecular diagnosis of patients with this condition. OBJECTIVES To conduct WES in a patient with congenital hypopituitarism born…
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Keywords:
hypopituitarism;
congenital hypopituitarism;
homozygous cdh2;
variant ... See more keywords