Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 3 (of 3 Records) |
Query Trace: Congenital Lymphedema[original query] |
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Biallelic mutation of FBXL7 suggests a novel form of Hennekam syndrome. American journal of medical genetics. Part A 2019 10 182 (1): 189-194. Boone Philip M, Paterson Scott, Mohajeri Kiana, Zhu Wenmiao, Genetti Casie A, Tai Derek J C, Nori Neeharika, Agrawal Pankaj B, Bacino Carlos A, Bi Weimin, Talkowski Michael E, Hogan Benjamin M, Rodan Lance |
Heterozygous deletion of the VEGFC gene in 4q34.3 is associated with Milroy-like lymphedema: First prenatal case report. American journal of medical genetics. Part A 2022 9 188 (12): 3550-3554. Huynh Minh-Tuan, Degre Sophie, Joly-Helas Géraldine, Bréon Cathy, Potel Stéphanie, Chambon Pascal, Bouligand Jérôme, Layet Valér |
Possible biallelic inheritance in TIE1 in a family with congenital lymphedema, intestinal lymphangiectasia and cutis aplasia. Clinical genetics 2023 4 . Aasem Abu Shtaya, Rivka Sukenik-Halevy, Lily Bazak, Gabriel Arie Lidzbarsky, Claudia Gonzaga-Jauregui, Irina Lagovsky, Yael Goldberg, Lina Basel-Salm |
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