X-linked hypohidrotic ectodermal dysplasia associated with gastroesophageal reflux disease

X-linked hypohidrotic ectodermal dysplasia (XLHED) is a rare genetic congenital disorder characterized by allelic heterogeneity, affecting the ectodermal structures. We present the case of a 4-month-old boy diagnosed with XLHED, suffering from recurrent aspiration pneumonia due to gastroesophageal r...

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Bibliographic Details
Main Authors: Yamato Hanawa, Wataru Murasaki, Tatsuya Ando, Yuji Baba, Hiroyuki Namba
Format: Article
Language:English
Published: Elsevier 2025-06-01
Series:Molecular Genetics and Metabolism Reports
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Online Access:http://www.sciencedirect.com/science/article/pii/S2214426925000436
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