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Keywords: Pitt-Hopkins syndrome
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Journal Articles

Pharmacological Treatment of Severe Breathing Abnormalities in a Case of HNRNPU Epileptic Encephalopathy

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Topic Article Package: Moksha , Endocrinology , Further Areas , Genetics , Women's and Children's Health
Carlotta Spagnoli, Susanna Rizzi, Grazia Gabriella Salerno, Daniele Frattini, Juha Koskenvuo, Carlo Fusco
Journal: Molecular Syndromology
Mol Syndromol (2021) 12 (2): 101–105.
https://doi.org/10.1159/000512566
Published Online: 21 May 2021
...Carlotta Spagnoli; Susanna Rizzi; Grazia Gabriella Salerno; Daniele Frattini; Juha Koskenvuo; Carlo Fusco Abnormal breathing patterns are a typical feature of Rett and Pitt-Hopkins syndrome and their variants. Their treatment can be challenging, with a risk of long-term detrimental consequences...
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Journal Articles

Pitt-Hopkins Syndrome

Available to Purchase
Subject Area:
Endocrinology , Further Areas , Genetics , Women's and Children's Health
M. Peippo, J. Ignatius
Journal: Molecular Syndromology
Mol Syndromol (2012) 2 (3-5): 171–180.
https://doi.org/10.1159/000335287
Published Online: 29 December 2011
...M. Peippo; J. Ignatius Pitt-Hopkins syndrome (PTHS, MIM #610954) is characterized by severe intellectual disability, typical facial features and tendency to epilepsy, panting-and-holding breathing anomaly, stereotypic movements, constipation, and high myopia. Growth is normal or only mildly...
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