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
Published 2021-05-01

TUBB Variants Underlying Different Phenotypes Result in Altered Vesicle Trafficking and Microtubule Dynamics

by Antonella Sferra, Stefania Petrini, Emanuele Bellacchio, Francesco Nicita, Francesco Scibelli, Maria Lisa Dentici, Paolo Alfieri, Gianluca Cestra, Enrico Silvio Bertini, Ginevra Zanni
Published 2020-02-01

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
Published 2021-10-01

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
Published 2020-03-01

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
Published 2021-04-01

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
Published 2021-01-01

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
Published 2020-11-01