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Severe adrenal insufficiency in six neonates with normal newborn screening for CAH.
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32952553 (PubMed )
Supplement: 2190508.f1.docx
Homozygous nonsense and frameshift mutations of the ACTH receptor in children with familial glucocorticoid deficiency (FGD) are not associated with long-term mineralocorticoid deficiency.
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