A Comparison of Adaptive Functioning Between Children With Duplication 7 Syndrome and Williams-Beuren Syndrome: A Pilot Investigation by Paolo Alfieri, Francesco Scibelli, Federica Alice Maria Montanaro, Cristina Caciolo, Paola Bergonzini, Maria Lisa Dentici, Maria Lisa Dentici, Stefano Vicari, Stefano Vicari, Stefano Vicari

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Ectodermal Dysplasia-Syndactyly Syndrome with Toe-Only Minimal Syndactyly Due to a Novel Mutation in NECTIN4: A Case Report and Literature Review by Roberta Rotunno, Andrea Diociaiuti, Maria Lisa Dentici, Martina Rinelli, Michele Callea, Chiara Retrosi, Giovanna Zambruno, Emanuele Bellacchio, May El Hachem

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Vascular Birthmarks as a Clue for Complex and Syndromic Vascular Anomalies by Andrea Diociaiuti, Guglielmo Paolantonio, Mario Zama, Rita Alaggio, Claudia Carnevale, Andrea Conforti, Claudia Cesario, Maria Lisa Dentici, Paola Sabrina Buonuomo, Massimo Rollo, May El Hachem

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Co-occurrence of mutations in KIF7 and KIAA0556 in Joubert syndrome with ocular coloboma, pituitary malformation and growth hormone deficiency: a case report and literature review by Marcello Niceta, Maria Lisa Dentici, Andrea Ciolfi, Romana Marini, Sabina Barresi, Francesca Romana Lepri, Antonio Novelli, Enrico Bertini, Marco Cappa, Maria Cristina Digilio, Bruno Dallapiccola, Marco Tartaglia

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Case report: A new de novo 6q21q22.1 interstitial deletion case in a girl with cerebellar vermis hypoplasia and developmental delay and literature review by Chiara Minotti, Chiara Minotti, Ludovico Graziani, Ludovico Graziani, Ester Sallicandro, Maria Cristina Digilio, Roberto Falasca, Viola Alesi, Giuseppe Novelli, Giuseppe Novelli, Maria Lisa Dentici, Sara Loddo, Antonio Novelli

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Cognitive and Adaptive Characterization of Children and Adolescents with KBG Syndrome: An Explorative Study by Paolo Alfieri, Cristina Caciolo, Giulia Lazzaro, Deny Menghini, Francesca Cumbo, Maria Lisa Dentici, Maria Cristina Digilio, Maria Gnazzo, Francesco Demaria, Virginia Pironi, Giuseppe Zampino, Antonio Novelli, Marco Tartaglia, Stefano Vicari

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Corrigendum: PTCHD1 gene mutation/deletion: the cognitive-behavioral phenotyping of four case reports by Federica Alice Maria Montanaro, Alessandra Mandarino, Viola Alesi, Charles Schwartz, Daniela Judith Claps Sepulveda, Cindy Skinner, Michael Friez, Gabriele Piccolo, Antonio Novelli, Ginevra Zanni, Maria Lisa Dentici, Stefano Vicari, Paolo Alfieri

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A Complex Genomic Rearrangement Resulting in Loss of Function of <i>SCN1A</i> and <i>SCN2A</i> in a Patient with Severe Developmental and Epileptic Encephalopathy by Valeria Orlando, Silvia Di Tommaso, Viola Alesi, Sara Loddo, Silvia Genovese, Giorgia Catino, Licia Martucci, Maria Cristina Roberti, Marina Trivisano, Maria Lisa Dentici, Nicola Specchio, Bruno Dallapiccola, Alessandro Ferretti, Antonio Novelli

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PTCHD1 gene mutation/deletion: the cognitive-behavioral phenotyping of four case reports by Federica Alice Maria Montanaro, Alessandra Mandarino, Viola Alesi, Charles Schwartz, Daniela Judith Claps Sepulveda, Cindy Skinner, Michael Friez, Gabriele Piccolo, Antonio Novelli, Ginevra Zanni, Maria Lisa Dentici, Stefano Vicari, Paolo Alfieri

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Analysis of gut microbiota in patients with Williams–Beuren Syndrome reveals dysbiosis linked to clinical manifestations by Federica Del Chierico, Valeria Marzano, Matteo Scanu, Sofia Reddel, Maria Lisa Dentici, Rossella Capolino, Maddalena Di Donato, Iolanda Spasari, Ersilia Vita Fiscarelli, Maria Cristina Digilio, Maria Teresa Abreu, Bruno Dallapiccola, Lorenza Putignani

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Homozygous <i>HESX1</i> and <i>COL1A1</i> Gene Variants in a Boy with Growth Hormone Deficiency and Early Onset Osteoporosis by Viola Alesi, Maria Lisa Dentici, Silvia Genovese, Sara Loddo, Emanuele Bellacchio, Valeria Orlando, Silvia Di Tommaso, Giorgia Catino, Chiara Calacci, Giusy Calvieri, Daniele Pompili, Graziamaria Ubertini, Bruno Dallapiccola, Rossella Capolino, Antonio Novelli

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7q11.23 Microduplication Syndrome: Clinical and Neurobehavioral Profiling by Maria Lisa Dentici, Paola Bergonzini, Francesco Scibelli, Cristina Caciolo, Paola De Rose, Francesca Cumbo, Viola Alesi, Rossella Capolino, Ginevra Zanni, Lorenzo Sinibaldi, Antonio Novelli, Marco Tartaglia, Maria Cristina Digilio, Bruno Dallapiccola, Stefano Vicari, Paolo Alfieri

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Williams–Beuren syndrome shapes the gut microbiota metaproteome by Valeria Marzano, Stefano Levi Mortera, Pamela Vernocchi, Federica Del Chierico, Chiara Marangelo, Valerio Guarrasi, Simone Gardini, Maria Lisa Dentici, Rossella Capolino, Maria Cristina Digilio, Maddalena Di Donato, Iolanda Spasari, Maria Teresa Abreu, Bruno Dallapiccola, Lorenza Putignani

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From Feeding Challenges to Oral-Motor Dyspraxia: A Comprehensive Description of 10 New Cases with CTNNB1 Syndrome by Roberta Onesimo, Elisabetta Sforza, Valentina Trevisan, Chiara Leoni, Valentina Giorgio, Donato Rigante, Eliza Maria Kuczynska, Francesco Proli, Cristiana Agazzi, Domenico Limongelli, Maria Cistina Digilio, Maria Lisa Dentici, Maria Macchiaiolo, Antonio Novelli, Andrea Bartuli, Lorenzo Sinibaldi, Marco Tartaglia, Giuseppe Zampino

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Congenital Heart Defects in Patients with Molecularly Confirmed Sotos Syndrome by Giulio Calcagni, Federica Ferrigno, Alessio Franceschini, Maria Lisa Dentici, Rossella Capolino, Lorenzo Sinibaldi, Chiara Minotti, Alessia Micalizzi, Viola Alesi, Antonio Novelli, Anwar Baban, Giovanni Parlapiano, Domenico Coviello, Paolo Versacci, Carolina Putotto, Marcello Chinali, Fabrizio Drago, Andrea Bartuli, Bruno Marino, Maria Cristina Digilio

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