Allan-Herndon-Dudley syndrome in a female patient and related mechanisms

Allan-Herndon-Dudley syndrome in a female patient and related mechanisms

Allan-Herndon-Dudley syndrome (AHDS) is characterized by neuropsychomotor developmental delay/intellectual disability, neurological impairment with a movement disorder, and an abnormal thyroid hormone profile. This disease is an X-linked disorder that mainly affects men. We described a female patien...

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Bibliographic Details
Main Authors: Caroline Olivati, Bianca Pereira Favilla, Erika Lopes Freitas, Bibiana Santos, Maria Isabel Melaragno, Vera Ayres Meloni, Flavia Piazzon
Format: Article
Language:English
Published: Elsevier 2022-06-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Allan-Herndon-Dudley syndrome
SLC16A2 gene
X-chromosome inactivation
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426922000398

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http://www.sciencedirect.com/science/article/pii/S2214426922000398

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