合計: 4 |
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PMID (PMCID) | ||
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28322501 |
MIXED_SAMPLE | |
Multigenerational pedigree with STAR syndrome: A novel FAM58A variant and expansion of the phenotype. | ||
Boczek NJ, Kruisselbrink T, Cousin MA, Blackburn PR, Klee EW, Gavrilova RH, Lanpher BC. Am J Med Genet A. 2017;173(5):1328-1333. |
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STAR syndrome is a rare X-linked dominant disorder characterized by toe Syndactyly, Telecanthus, Anogenital malformations, and Renal malformations, and is caused by loss-of-function variants in FAM58A. | ||
26882209 |
FEMALE | Infant |
Ocular manifestations of X-linked dominant FAM58A mutation in toe syndactyly, telecanthus, anogenital, and renal malformations ('STAR') syndrome. | ||
Orge FH, Dar SA, Blackburn CN, Grimes-Hodges SJ, Mitchell AL. Ophthalmic Genet. 2016;37(3):323-7. |
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To report the newest ophthalmic manifestations of a mother-daughter pair diagnosed with toe syndactyly, telecanthus, anogenital and renal malformations (STAR) syndrome, a rare X-linked developmental disorder. | ||
26882209 |
FEMALE | Infant |
Ocular manifestations of X-linked dominant FAM58A mutation in toe syndactyly, telecanthus, anogenital, and renal malformations ('STAR') syndrome. | ||
Orge FH, Dar SA, Blackburn CN, Grimes-Hodges SJ, Mitchell AL. Ophthalmic Genet. 2016;37(3):323-7. |
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Ocular manifestations of X-linked dominant FAM58A mutation in toe syndactyly, telecanthus, anogenital, and renal malformations ('STAR') syndrome. | ||
18297069 |
FEMALE | Infant |
Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations. | ||
Unger S, Bohm D, Kaiser FJ, Kaulfuss S, Borozdin W, Buiting K, Burfeind P, Bohm J, Barrionuevo F, Craig A, Borowski K, Keppler-Noreuil K, Schmitt-Mechelke T, Steiner B, Bartholdi D, Lemke J, Mortier G, Sandford R, Zabel B, Superti-Furga A, Kohlhase J. Nat Genet. 2008;40(3):287-9. |
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Toe syndactyly, telecanthus and anogenital and renal malformations were present in all affected individuals; thus, we propose the name 'STAR syndrome' for this disorder. |