Clinical and molecular characterization of an 18‐month‐old infant with autosomal recessive cutis laxa type 1C due to a novel LTBP4 pathogenic variant, and literature review

por Ritelli, Marco, Cammarata‐Scalisi, Francisco, Cinquina, Valeria, Colombi, Marina
Publicado 2019

Challenges in Communicating a Genetic Diagnosis

por Cammarata-Scalisi, Francisco, Willoughby, Colin Eric, Romano, Vito, Callea, Michele
Publicado 2023

Membranous aplasia cutis congenita in trisomy 18

por Cammarata-Scalisi, Francisco, Diociaiuti, Andrea, de Guerrero, Blanca, Willoughby, Colin Eric, Callea, Michele
Publicado 2020

Variable Expressivity of the Beckwith-Wiedemann Syndrome in Four Pedigrees Segregating Loss-of-Function Variants of CDKN1C

por Sparago, Angela, Cerrato, Flavia, Pignata, Laura, Cammarata-Scalisi, Francisco, Garavelli, Livia, Piscopo, Carmelo, Vancini, Alessandra, Riccio, Andrea
Publicado 2021

Multisystemic Manifestations in Rare Diseases: The Experience of Dyskeratosis Congenita

por Callea, Michele, Martinelli, Diego, Cammarata-Scalisi, Francisco, Grimaldi, Chiara, Jilani, Houweyda, Grimaldi, Piercesare, Willoughby, Colin Eric, Morabito, Antonino
Publicado 2022

Extended Overview of Ocular Phenotype with Recent Advances in Hypohidrotic Ectodermal Dysplasia

por Callea, Michele, Bignotti, Stefano, Semeraro, Francesco, Cammarata-Scalisi, Francisco, El-Feghaly, Jinia, Morabito, Antonino, Romano, Vito, Willoughby, Colin E.
Publicado 2022

Oral Manifestations and Complications in Childhood Acute Myeloid Leukemia

por Cammarata-Scalisi, Francisco, Girardi, Katia, Strocchio, Luisa, Merli, Pietro, Bernardin, Annelyse Garret, Galeotti, Angela, Magliarditi, Fabio, Inserra, Alessandro, Callea, Michele
Publicado 2020

Clinical and Genetic Aspects of Phelan–McDermid Syndrome: An Interdisciplinary Approach to Management

por Cammarata-Scalisi, Francisco, Callea, Michele, Martinelli, Diego, Willoughby, Colin Eric, Tadich, Antonio Cárdenas, Araya Castillo, Maykol, Lacruz-Rengel, María Angelina, Medina, Marco, Grimaldi, Piercesare, Bertini, Enrico, Nevado, Julián
Publicado 2022

Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta

por Caparros‐Martin, Jose A., Aglan, Mona S., Temtamy, Samia, Otaify, Ghada A., Valencia, Maria, Nevado, Julián, Vallespin, Elena, Del Pozo, Angela, Prior de Castro, Carmen, Calatrava‐Ferreras, Lucia, Gutierrez, Pilar, Bueno, Ana M., Sagastizabal, Belen, Guillen‐Navarro, Encarna, Ballesta‐Martinez, Maria, Gonzalez, Vanesa, Basaran, Sarenur Y., Buyukoglan, Ruksan, Sarikepe, Bilge, Espinoza‐Valdez, Cecilia, Cammarata‐Scalisi, Francisco, Martinez‐Glez, Victor, Heath, Karen E., Lapunzina, Pablo, Ruiz‐Perez, Victor L.
Publicado 2016