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2. Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis. Fotiou E; Martin-Almedina S; Simpson MA; Lin S; Gordon K; Brice G; Atton G; Jeffery I; Rees DC; Mignot C; Vogt J; Homfray T; Snyder MP; Rockson SG; Jeffery S; Mortimer PS; Mansour S; Ostergaard P Nat Commun; 2015 Sep; 6():8085. PubMed ID: 26333996 [TBL] [Abstract][Full Text] [Related]
3. A homozygous variant in growth and differentiation factor 2 (GDF2) may cause lymphatic dysplasia with hydrothorax and nonimmune hydrops fetalis. Aukema SM; Ten Brinke GA; Timens W; Vos YJ; Accord RE; Kraft KE; Santing MJ; Morssink LP; Streefland E; van Diemen CC; Vrijlandt EJ; Hulzebos CV; Kerstjens-Frederikse WS Am J Med Genet A; 2020 Sep; 182(9):2152-2160. PubMed ID: 32618121 [TBL] [Abstract][Full Text] [Related]
4. Identification of novel PIEZO1 variants using prenatal exome sequencing and correlation to ultrasound and autopsy findings of recurrent hydrops fetalis. Datkhaeva I; Arboleda VA; Senaratne TN; Nikpour G; Meyerson C; Geng Y; Afshar Y; Scibetta E; Goldstein J; Quintero-Rivera F; Crandall BF; Grody WW; Deignan J; Janzen C Am J Med Genet A; 2018 Dec; 176(12):2829-2834. PubMed ID: 30244526 [TBL] [Abstract][Full Text] [Related]
5. Extended phenotypes of PIEZO1-related lymphatic dysplasia caused by two novel compound heterozygous variants. Lee S; Park S; Kim HY; Chae JH; Ko JM Eur J Med Genet; 2021 Oct; 64(10):104295. PubMed ID: 34371190 [TBL] [Abstract][Full Text] [Related]
6. h Mackie DI; Al Mutairi F; Davis RB; Kechele DO; Nielsen NR; Snyder JC; Caron MG; Kliman HJ; Berg JS; Simms J; Poyner DR; Caron KM J Exp Med; 2018 Sep; 215(9):2339-2353. PubMed ID: 30115739 [TBL] [Abstract][Full Text] [Related]
7. Perinatal presentations of non-immune hydrops fetalis due to recessive PIEZO1 disease: A challenging fetal diagnosis. Ghesh L; Désir J; Haye D; Le Tanno P; Devillard F; Cogné B; Marangoni M; Tecco L; Heron D; Le Vaillant C; Joubert M; Beneteau C Clin Genet; 2023 May; 103(5):560-565. PubMed ID: 36453701 [TBL] [Abstract][Full Text] [Related]
8. CCBE1 mutations can cause a mild, atypical form of generalized lymphatic dysplasia but are not a common cause of non-immune hydrops fetalis. Connell FC; Kalidas K; Ostergaard P; Brice G; Murday V; Mortimer PS; Jeffrey I; Jeffery S; Mansour S Clin Genet; 2012 Feb; 81(2):191-7. PubMed ID: 22239599 [No Abstract] [Full Text] [Related]
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11. CCBE1 mutation in two siblings, one manifesting lymphedema-cholestasis syndrome, and the other, fetal hydrops. Shah S; Conlin LK; Gomez L; Aagenaes Ø; Eiklid K; Knisely AS; Mennuti MT; Matthews RP; Spinner NB; Bull LN PLoS One; 2013; 8(9):e75770. PubMed ID: 24086631 [TBL] [Abstract][Full Text] [Related]
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13. Lymphoscintigraphy patterns in newborns and children with congenital lymphatic dysplasia. Bellini C; Villa G; Sambuceti G; Traggiai C; Campisi C; Bellini T; Morcaldi G; Massocco D; Bonioli E; Boccardo F Lymphology; 2014 Mar; 47(1):28-39. PubMed ID: 25109167 [TBL] [Abstract][Full Text] [Related]
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17. Utility of fetal whole exome sequencing in the etiological evaluation and outcome of nonimmune hydrops fetalis. Correa ARE; Naini K; Mishra P; Dadhwal V; Agarwal R; Shukla R; Kabra M; Gupta N Prenat Diagn; 2021 Oct; 41(11):1414-1424. PubMed ID: 34302381 [TBL] [Abstract][Full Text] [Related]
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19. Biallelic mutation of FBXL7 suggests a novel form of Hennekam syndrome. Boone PM; Paterson S; Mohajeri K; Zhu W; Genetti CA; Tai DJC; Nori N; Agrawal PB; Bacino CA; Bi W; Talkowski ME; Hogan BM; Rodan LH Am J Med Genet A; 2020 Jan; 182(1):189-194. PubMed ID: 31633297 [TBL] [Abstract][Full Text] [Related]
20. A novel CCBE1 mutation leading to a mild form of hennekam syndrome: case report and review of the literature. Frosk P; Chodirker B; Simard L; El-Matary W; Hanlon-Dearman A; Schwartzentruber J; Majewski J; ; Rockman-Greenberg C BMC Med Genet; 2015 Apr; 16():28. PubMed ID: 25925991 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]