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Stefano Giuseppe Caraffi
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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 articletitled, 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
Open the PDF for 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 in another window
Journal Articles

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

Available to Purchase
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 articletitled, Expanding Phenotype of SYT1 -Related Neurodevelopmental Disorder: Case Report and Literature Review
Open the PDF for Expanding Phenotype of SYT1 -Related Neurodevelopmental Disorder: Case Report and Literature Review in another window