Clinical and molecular characterization of Costello syndrome in unrelated Mexican patients Ríos-González, Blanca E.; Rodríguez-Ortiz, Jessica F.; Castro-Martínez, Anna G.; More Ríos-González, Blanca E.; Rodríguez-Ortiz, Jessica F.; Castro-Martínez, Anna G.; Magaña-Torres, María T.; Barros-Núñez, Patricio Less Clinical Dysmorphology. 31(2):55-58, April 2022. Abstract Abstract Favorites PDF Get Content & Permissions Buy
Variable neurological phenotypes of homocystinuria caused by biallelic methylenetetrahydrofolate reductase variants Moirangthem, Amita; Saxena, Deepti; Masih, Suzena; More Moirangthem, Amita; Saxena, Deepti; Masih, Suzena; Shambhavi, Arya; Nilay, Mayank; Phadke, Shubha R. Less Clinical Dysmorphology. 31(2):59-65, April 2022. Abstract Abstract Favorites PDF Get Content & Permissions Buy
Expanding the phenotypic spectrum of ALDH18A1-related autosomal recessive cutis laxa with a description of novel neuroradiological findings Pickwick, Charlotte; Callewaert, Bert; van Dijk, Fleur; More Pickwick, Charlotte; Callewaert, Bert; van Dijk, Fleur; Harris, Juliette; Wakeling, Emma; Hay, Eleanor; Yeo, Mildrid; Chakrapani, Anupam; Baptista, Julia; Moore, Sandra; Yoong, Michael; Chatterjee, Fiona; Ghali, Neeti Less Clinical Dysmorphology. 31(2):66-70, April 2022. Favorites PDF Get Content & Permissions Buy
A novel variant in WNT5A responsible for Robinow syndrome in a male fetus with limb shortening and agenesis of the penis Zhu, Haiyan; Chen, Yuanyuan; Niu, Yanyan; More Zhu, Haiyan; Chen, Yuanyuan; Niu, Yanyan; Zhang, Yunshan; Chen, Lei Less Clinical Dysmorphology. 31(2):71-73, April 2022. Favorites PDF Get Content & Permissions Buy
Two new cases of nonepileptic neurodevelopmental disorder due to GRIN2B variants and detailed clinical description of the behavioral phenotype Buonuomo, Paola Sabrina; Mastrogiorgio, Gerarda; Alfieri, Paolo; More Buonuomo, Paola Sabrina; Mastrogiorgio, Gerarda; Alfieri, Paolo; Terracciano, Alessandra; Cesario, Claudia; Rana, Ippolita; Macchiaiolo, Marina; Veronika Gonfiantini, Michaela; Vecchio, Davide; Cristina Digilio, Maria; Lisa Dentici, Maria; Cumbo, Francesca; Novelli, Antonio; Bartuli, Andrea Less Clinical Dysmorphology. 31(2):74-78, April 2022. Favorites PDF Get Content & Permissions Buy
A further case of Skraban-Deardorff syndrome and review of the literature Shirley Cheng, Sze Wing; Luk, Ho-Ming; Lo, Fai Man Ivan Shirley Cheng, Sze Wing; Luk, Ho-Ming; Lo, Fai Man Ivan Less Clinical Dysmorphology. 31(2):79-83, April 2022. Favorites PDF Get Content & Permissions Buy
Autosomal recessive EXT2 syndrome - extending the phenotypic spectrum of an emerging condition, a further case? Sabir, Ataf H.; Singhal, Juhi; Man, Jessica; More Sabir, Ataf H.; Singhal, Juhi; Man, Jessica; Cooper, Nicola; Cheung, Moira; Irving, Melita Less Clinical Dysmorphology. 31(2):84-90, April 2022. Favorites PDF Get Content & Permissions Buy
Angelman syndrome with a 15q11q13 deletion in a mother and daughter Bell, Shannon; Butler, Kameryn M.; Drazba, Kathryn T.; More Bell, Shannon; Butler, Kameryn M.; Drazba, Kathryn T.; Lynch, Jennifer; Abidi, Fatima E.; DuPont, Barbara; Stevenson, Roger E. Less Clinical Dysmorphology. 31(2):91-93, April 2022. Favorites PDF Get Content & Permissions Buy
Silver–Russell syndrome caused by trisomy 11p15.5 due to a derivative X chromosome from a de novo t(X;11) in a Mexican female patient Paz-Ramírez, Monserrat; Muñoz-Martínez, Linda B.; Morales-Jiménez, Ariadna B.; More Paz-Ramírez, Monserrat; Muñoz-Martínez, Linda B.; Morales-Jiménez, Ariadna B.; Morán-Barroso, Verónica F.; García-Delgado, Constanza; Azotla-Vilchis, Cuauhtli N.; Márquez-Quiroz, Luz C.; Astiazarán, Mirena C. Less Clinical Dysmorphology. 31(2):94-97, April 2022. Favorites PDF Get Content & Permissions Buy
A novel genomic variant in two siblings with very low-density lipoprotein receptor-associated cerebellar hypoplasia Yuce Kahraman, Cigdem; Ercoskun, Pelin; Yakar, Omer; More Yuce Kahraman, Cigdem; Ercoskun, Pelin; Yakar, Omer; Tatar, Abdulgani Less Clinical Dysmorphology. 31(2):98-100, April 2022. Favorites PDF Get Content & Permissions Buy
X-linked Ohdo syndrome due to a novel MED12 variant detected by Rapid Exome Sequencing McDermott, Helen; Garikapati, Vidya; Baptista, Júlia; More McDermott, Helen; Garikapati, Vidya; Baptista, Júlia; Gowda, Harsha; Naik, Swati Less Clinical Dysmorphology. 31(2):101-105, April 2022. Favorites PDF Get Content & Permissions Buy
Novel antenatal presentation of cystic hygroma in a case of Koolen–de Vries syndrome Oakley-Hannibal, Elizabeth; Tyagi, Vipin; Das, Shyam; More Oakley-Hannibal, Elizabeth; Tyagi, Vipin; Das, Shyam; Wakeling, Emma; Gardham, Alice Less Clinical Dysmorphology. 31(2):106-108, April 2022. Favorites PDF Get Content & Permissions Buy
