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2. A case of Raine syndrome presenting with facial dysmorphy and review of literature. Sheth J; Bhavsar R; Gandhi A; Sheth F; Pancholi D BMC Med Genet; 2018 May; 19(1):76. PubMed ID: 29751744 [TBL] [Abstract][Full Text] [Related]
3. A Rare Cause of Hypophosphatemia: Raine Syndrome Changing Clinical Features with Age. Eltan M; Alavanda C; Yavas Abali Z; Ergenekon P; Yalındag Ozturk N; Sakar M; Dagcinar A; Kirkgoz T; Kaygusuz SB; Gokdemir Y; Elcioglu HN; Guran T; Bereket A; Ata P; Turan S Calcif Tissue Int; 2020 Jul; 107(1):96-103. PubMed ID: 32337609 [TBL] [Abstract][Full Text] [Related]
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5. A novel FAM20C mutation causes a rare form of neonatal lethal Raine syndrome. Hung CY; Rodriguez M; Roberts A; Bauer M; Mihalek I; Bodamer O Am J Med Genet A; 2019 Sep; 179(9):1866-1871. PubMed ID: 31297960 [TBL] [Abstract][Full Text] [Related]
6. Fetal ultrasonographic findings including cerebral hyperechogenicity in a patient with non-lethal form of Raine syndrome. Tamai K; Tada K; Takeuchi A; Nakamura M; Marunaka H; Washio Y; Tanaka H; Miya F; Okamoto N; Kageyama M Am J Med Genet A; 2018 Mar; 176(3):682-686. PubMed ID: 29341424 [TBL] [Abstract][Full Text] [Related]
7. Variability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutations. Acevedo AC; Poulter JA; Alves PG; de Lima CL; Castro LC; Yamaguti PM; Paula LM; Parry DA; Logan CV; Smith CE; Johnson CA; Inglehearn CF; Mighell AJ BMC Med Genet; 2015 Feb; 16():8. PubMed ID: 25928877 [TBL] [Abstract][Full Text] [Related]
9. Raine syndrome: Prenatally identified severe craniofacial phenotype with multisuture synostosis and brain abnormalities associated with variants in FAM20C. Verscaj CP; Smith C; Homeyer M; Matalon DR Prenat Diagn; 2024 Mar; 44(3):369-372. PubMed ID: 38163266 [TBL] [Abstract][Full Text] [Related]
10. Mutations in FAM20C also identified in non-lethal osteosclerotic bone dysplasia. Simpson MA; Scheuerle A; Hurst J; Patton MA; Stewart H; Crosby AH Clin Genet; 2009 Mar; 75(3):271-6. PubMed ID: 19250384 [TBL] [Abstract][Full Text] [Related]
11. FAM20C Overview: Classic and Novel Targets, Pathogenic Variants and Raine Syndrome Phenotypes. Palma-Lara I; Pérez-Ramírez M; García Alonso-Themann P; Espinosa-García AM; Godinez-Aguilar R; Bonilla-Delgado J; López-Ornelas A; Victoria-Acosta G; Olguín-García MG; Moreno J; Palacios-Reyes C Int J Mol Sci; 2021 Jul; 22(15):. PubMed ID: 34360805 [No Abstract] [Full Text] [Related]
12. Hereditary deletion of the entire FAM20C gene in a patient with Raine syndrome. Ababneh FK; AlSwaid A; Youssef T; Al Azzawi M; Crosby A; AlBalwi MA Am J Med Genet A; 2013 Dec; 161A(12):3155-60. PubMed ID: 24039075 [TBL] [Abstract][Full Text] [Related]
13. Mutations of family with sequence similarity 20-member C gene causing lethal and nonlethal Raine syndrome causes hypophosphatemia rickets. Liu P; Li J; Tang L; Cong W; Jin H; Zhang H; Cui B; Yang S; Xiao J; Liu C; Saiyin W J Cell Physiol; 2023 Nov; 238(11):2556-2569. PubMed ID: 37698039 [TBL] [Abstract][Full Text] [Related]
14. Osteosclerotic bone dysplasia in siblings with a Fam20C mutation. Fradin M; Stoetzel C; Muller J; Koob M; Christmann D; Debry C; Kohler M; Isnard M; Astruc D; Desprez P; Zorres C; Flori E; Dollfus H; Doray B Clin Genet; 2011 Aug; 80(2):177-83. PubMed ID: 20825432 [TBL] [Abstract][Full Text] [Related]
15. Hypophosphatemic osteomalacia and bone sclerosis caused by a novel homozygous mutation of the FAM20C gene in an elderly man with a mild variant of Raine syndrome. Takeyari S; Yamamoto T; Kinoshita Y; Fukumoto S; Glorieux FH; Michigami T; Hasegawa K; Kitaoka T; Kubota T; Imanishi Y; Shimotsuji T; Ozono K Bone; 2014 Oct; 67():56-62. PubMed ID: 24982027 [TBL] [Abstract][Full Text] [Related]
16. Nonlethal Raine Syndrome in a Newborn Boy Caused by a Novel Eras N; Celik Y Mol Syndromol; 2021 Jun; 12(3):169-173. PubMed ID: 34177433 [TBL] [Abstract][Full Text] [Related]
17. Non-lethal Raine Syndrome in a Middle-Aged Woman Caused by a Novel FAM20C Mutation. Mamedova E; Dimitrova D; Przhiyalkovskaya E; Buryakina S; Vasilyev E; Tiulpakov A; Belaya Z Calcif Tissue Int; 2019 Nov; 105(5):567-572. PubMed ID: 31471673 [TBL] [Abstract][Full Text] [Related]
18. Intracranial calcification in Fam20c-deficient mice recapitulates human Raine syndrome. Zhang H; Lu Y; Kramer PR; Benson MD; Cheng YL; Qin C Neurosci Lett; 2023 Apr; 802():137176. PubMed ID: 36914045 [TBL] [Abstract][Full Text] [Related]
19. Functional analysis of mutant FAM20C in Raine syndrome with FGF23-related hypophosphatemia. Kinoshita Y; Hori M; Taguchi M; Fukumoto S Bone; 2014 Oct; 67():145-51. PubMed ID: 25026495 [TBL] [Abstract][Full Text] [Related]