| 1 | A new Ehlers-Danlos syndrome with craniofacial charac teristics, multiple congenital contractures, progressive joint and skin laxity, and multisystem fragility-related manifestations. (20503305) | Kosho T.... Matsumoto N. | 2010 | PLOD1 |
| 2 | A novel mutation (C1425Y) in the FBN2 gene in a fathe r and son with congenital contractural arachnodactyly. (19473076) | Chen Y.... Li H. | 2009 | FBN2 |
| 3 | Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature. (19006240) | Callewaert B.L.... De Paepe A.M. | 2009 | FBN2 |
| 4 | Clinical diagnosis and surgical treatment of congenital contractural arachnodactyly: analysis of 6 cases (18646717) | Wang X.S.... Zhao L.J. | 2008 | FBN2 |
| 5 | FBN2, FBN1, TGFBR1, and TGFBR2 analyses in congenital contractural arachnodactyly. (17345643) | Nishimura A.... Matsumoto N. | 2007 | FBN1, FBN2 |
| 6 | Lethal congenital contractural syndrome type 2 (LCCS2) is caused by a mutation in ERBB3 (Her3), a modulator of the phosphatidylinositol-3- kinase/Akt pathway. (17701904) | Narkis G.... Birk O.S. | 2007 | ERBB3 |
| 7 | Congenital contractural arachnodactyly (Beals syndrome). (16740166) | Tuncbilek E.... Alanay Y. | 2006 | FBN2 |
| 8 | Long-term survival in a child with severe congenital contractural arachnodactyly, autism and severe intellectual disability. (16531736) | Snape K.M.... Delatycki M.B. | 2006 | FBN2 |
| 9 | Congenital contractural arachnodactyly (Beals-Hecht syndrome) associated with Brown's syndrome (15912465) | Fehlow P. | 2005 | FBN2 |
| 10 | FBN2 mutation associated with manifestations of Marfan syndrome and congenital contractural arachnodactyly. (15121784) | Gupta P.A.... Milewicz D.M. | 2004 | FBN2 |
| 11 | Homozygosity mapping of lethal congenital contractural syndrome type 2 (LCCS2) to a 6 cM interval on chromosome 12q13. (15378541) | Narkis G.... Birk O.S. | 2004 | ERBB3 |
| 12 | Mutations in TNNT3 cause multiple congenital contractures: a second locus for distal arthrogryposis type 2B. (12865991) | Sung S.S.... Bamshad M. | 2003 | TNNT3 |
| 13 | Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotype. (11754102) | Gupta P.A.... Milewicz D.M. | 2002 | FBN1, FBN2 |
| 14 | Prenatal ultrasound findings in a fetus with congenital contractural arachnodactyly. (12383326) | Kolble N.... Steinmann B. | 2002 | FBN2 |
| 15 | Two novel fibrillin-2 mutations in congenital contractural arachnodactyly. (10797416) | Belleh S.... Godfrey M. | 2000 | FBN2 |
| 16 | Prenatal diagnosis of a constitutional interstitial deletion of chromosome 5 (q15q31.1) presenting with features of congenital contractural arachnodactyly. (9605585) | Courtens W.... Wauters J. | 1998 | FBN2 |
| 17 | Assignment of the disease locus for lethal congenital contracture syndrome to a restricted region of chromosome 9q34, by genome scan using five affected individuals. (9683599) | Makela-Bengs P.... Peltonen L. | 1998 | GLE1 |
| 18 | Clustering of FBN2 mutations in patients with congenital contractural arachnodactyly indicates an important role of the domains encoded by exons 24 through 34 during human development. (9714438) | Park E.-S.... Milewicz D.M. | 1998 | FBN2 |
| 19 | A single mutation that results in an Asp-to-His substitution and partial exon skipping in a family with congenital contractural arachnodactyly. (9737771) | Babcock D.... Maslen C. | 1998 | FBN2 |
| 20 | Prenatal diagnosis in congenital contractural arachnodactyly. (10464661) | Belleh S.... Godfrey M. | 1997-1998 | FBN2 |
| 21 | A rare branch-point mutation is associated with missplicing of fibrillin-2 in a large family with congenital contractural arachnodactyly. (9199560) | Maslen C.... Steinmann B. | 1997 | FBN2 |
| 22 | Familial occurrence of typical and severe lethal congenital contractural arachnodactyly caused by missplicing of exon 34 of fibrillin-2. (8900230) | Wang M.... Godfrey M. | 1996 | FBN2 |
| 23 | Fibrillin-2 (FBN2) mutations result in the Marfan-like disorder, congenital contractural arachnodactyly. (7493032) | Putnam E.A.... Milewicz D.M. | 1995 | EGF, FBN2 |
