Article
Endocrine features of Prader-Willi syndrome: a narrative review focusing on genotype-phenotype correlation.
Frontiers in endocrinology - 1 Jan 2024
Madeo Simona F, Zagaroli Luca, Vandelli Sara, Calcaterra Valeria, Crinò Antonino, De Sanctis Luisa, Faienza Maria Felicia, Fintini Danilo, Guazzarotti Laura, Licenziati Maria Rosaria, Mozzillo Enza, Pajno Roberta, Scarano Emanuela, Street Maria E, Wasniewska Malgorzata, Bocchini Sarah, Bucolo Carmen, Buganza Raffaele, Chiarito Mariangela, Corica Domenico, Di Candia Francesca, Francavilla Roberta, Fratangeli Nadia, Improda Nicola, Morabito Letteria A, Mozzato Chiara, Rossi Virginia, Schiavariello Concetta, Farello Giovanni, Iughetti Lorenzo, Salpietro Vincenzo, Salvatoni Alessandro, Giordano Mara, Grugni Graziano, Delvecchio Maurizio
Abstract excerpt
Prader-Willi syndrome (PWS) is a complex genetic disorder caused by three different types of molecular genetic abnormalities. The most common defect is a deletion on the paternal 15q11-q13 chromosome, which is seen in about 60% of individuals. The next most common abnormality is maternal disomy 15, found in around 35% of cases, and a defect in the imprinting center that controls the activity of certain genes on...
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