Associated Papers
The clinical characteristics and pathogenic variants of primary pigmented nodular adrenocortical disease in 210 patients: a systematic review.
Sun J et al.
Frontiers in Endocrinology, 2024
Atypical Presentation and Course of ACTH-Independent Cushing’s Syndrome in Two Families
Yüksek Acınıklı K et al.
Journal of Clinical Research in Pediatric Endocrinology, 2023
Familial Forms of Cushing Syndrome in Primary Pigmented Nodular Adrenocortical Disease Presenting with Short Stature and Insidious Symptoms: A Clinical Series.
Navarro Moreno C et al.
Hormone Research in Paediatrics, 2018
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
Familial isolated primary pigmented nodular adrenocortical disease associated with a novel low penetrance PRKAR1A gene splice site mutation.
Storr HL et al.
Hormone Research in Paediatrics, 2010
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