 |
|
Phelan-McDermid syndrome presenting with developmental delays and facial dysmorphisms
Yoon-Myung Kim (Kim YM), In-Hee Choi (Choi IH), Jun Suk Kim (Kim JS), Ja Hye Kim (Kim JH), Ja Hyang Cho (Cho JH), Beom Hee Lee (Lee BH), Gu-Hwan Kim (Kim GH), Jin-Ho Choi (Choi JH), Eul-Ju Seo (Seo EJ), Han-Wook Yoo (Yoo HW)
Clin Exp Pediatr. 2016;59(Suppl 1):S25-S28. Published online 2016 Nov 30 DOI: https://doi.org/10.3345/kjp.2016.59.11.S25
|
|
Citations to this article as recorded by
 Optical Genome Mapping (OGM) Identifies Multiple Structural Variants in a Case With Atypical Phelan‐McDermid Syndrome
Erica L. Macke, Anthony R. Miller, Caitlyn M. Colwell, Maria Hernandez Gonzalez, Jesse Hunter, Lakshmi Prakruthi Rao Venkata, Lauren Walker, Gregory Wheeler, Richard K. Wilson, Elaine R. Mardis, Katherine E. Miller, Mariam T. Mathew, Bimal P. Chaudhari, Y
American Journal of Medical Genetics Part A.2024;[Epub] CrossRef Updated consensus guidelines on the management of Phelan–McDermid syndrome
Siddharth Srivastava, Mustafa Sahin, Joseph D. Buxbaum, Elizabeth Berry‐Kravis, Latha Valluripalli Soorya, Audrey Thurm, Jonathan A. Bernstein, Afua Asante‐Otoo, William E. Bennett, Catalina Betancur, Tegwyn H. Brickhouse, Maria Rita Passos Bueno, Maya Ch
American Journal of Medical Genetics Part A.2023; 191(8): 2015. CrossRef State of the Science for Kidney Disorders in Phelan-McDermid Syndrome: UPK3A, FBLN1, WNT7B, and CELSR1 as Candidate Genes
Megan D. McCoy, Sara M. Sarasua, Jane M. DeLuca, Stephanie Davis, Katy Phelan, Roger Curtis Rogers, Luigi Boccuto
Genes.2022; 13(6): 1042. CrossRef The copy number variation landscape of congenital anomalies of the kidney and urinary tract
Miguel Verbitsky, Rik Westland, Alejandra Perez, Krzysztof Kiryluk, Qingxue Liu, Priya Krithivasan, Adele Mitrotti, David A. Fasel, Ekaterina Batourina, Matthew G. Sampson, Monica Bodria, Max Werth, Charlly Kao, Jeremiah Martino, Valentina P. Capone, Asaf
Nature Genetics.2019; 51(1): 117. CrossRef
|