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Marzia Pollazzon
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Journal Articles

Novel Insights from Clinical Practice: Xia-Gibbs Syndrome with Pes Cavus, Conjunctival Melanosis, and Eye Asymmetry due to a de novo AHDC1 Gene Variant – A Case Report and a Brief Review of the Literature

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Subject Area:
Genetics
Margherita Baga, Ivan Ivanovski, Gianluca Contrò, Stefano Giuseppe Caraffi, Carlotta Spagnoli, Carlo Alberto Cesaroni, Alberto Neri, Francesca Peluso, Marzia Pollazzon, Livia Garavelli, Carlo Fusco
Journal: Molecular Syndromology
Mol Syndromol (2024) 15 (1): 63–70.
https://doi.org/10.1159/000530410
Published Online: 08 September 2023
View article titled, Novel Insights from Clinical Practice: Xia-Gibbs Syndrome with Pes Cavus, Conjunctival Melanosis, and Eye Asymmetry due to a de novo AHDC1 Gene Variant – A Case Report and a Brief Review of the Literature
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Journal Articles

Expanding Phenotype of SYT1 -Related Neurodevelopmental Disorder: Case Report and Literature Review

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Subject Area:
Karger e-Journal Backfile Collection 2023 , Genetics
Carlo Alberto Cesaroni, Carlotta Spagnoli, Margherita Baga, Susanna Rizzi, Daniele Frattini, Stefano Giuseppe Caraffi, Marzia Pollazzon, Livia Garavelli, Carlo Fusco
Journal: Molecular Syndromology
Mol Syndromol (2023) 14 (6): 493–497.
https://doi.org/10.1159/000530586
Published Online: 12 May 2023
View article titled, Expanding Phenotype of SYT1 -Related Neurodevelopmental Disorder: Case Report and Literature Review
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Journal Articles

Endocrinological Abnormalities Are a Main Feature of 17p13.1 Microduplication Syndrome: A New Case and Literature Review

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Subject Area:
Topic Article Package: Diabetes , Topic Article Package: Diabetes 2017 , Endocrinology , Further Areas , Genetics , Women's and Children's Health
Ilenia Maini, Ivan Ivanovski, Alessandro Iodice, Simonetta Rosato, Marzia Pollazzon, Manuela Mussini, Elga F. Belligni, Charles Coutton, Maria Marinelli, Veronica Barbieri, Manuela Napoli, Rosario Pascarella, Chiara Sartori, Francesca Madia, Carlo Fusco, Fabrizia Franchi, Maria E. Street, Livia Garavelli
Journal: Molecular Syndromology
Mol Syndromol (2016) 7 (6): 337–343.
https://doi.org/10.1159/000450718
Published Online: 14 October 2016
View article titled, Endocrinological Abnormalities Are a Main Feature of 17p13.1 Microduplication Syndrome: A New Case and Literature Review
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