Literature DB >> 4552107

"New" syndrome of congenital contractural arachnodactyly originally described by Marfan in 1896.

F Hecht, R K Beals.   

Abstract

Entities:  

Mesh：

Year:  1972        PMID： 4552107

Source DB:  PubMed          Journal:  Pediatrics        ISSN： 0031-4005            Impact factor:   7.124


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  18 in total

1.  Muscle fibrillin deficiency in Marfan's syndrome myopathy.

Authors:  W M H Behan; C Longman; R K H Petty; P Comeglio; A H Child; M Boxer; P Foskett; D G F Harriman
Journal:  J Neurol Neurosurg Psychiatry       Date:  2003-05       Impact factor: 10.154

2.  Cardiac anomalies complicating congenital contractural arachnodactyly.

Authors:  A J Macnab; L D'Orsogna; D E Cole; P E Baguley; R J Adderley; M W Patterson
Journal:  Arch Dis Child       Date:  1991-10       Impact factor: 3.791

3.  Familial occurrence of typical and severe lethal congenital contractural arachnodactyly caused by missplicing of exon 34 of fibrillin-2.

Authors:  M Wang; C L Clericuzio; M Godfrey
Journal:  Am J Hum Genet       Date:  1996-11       Impact factor: 11.025

4.  Syndrome designations.

Authors:  M M Cohen
Journal:  J Med Genet       Date:  1976-08       Impact factor: 6.318

5.  A rare branch-point mutation is associated with missplicing of fibrillin-2 in a large family with congenital contractural arachnodactyly.

Authors:  C Maslen; D Babcock; M Raghunath; B Steinmann
Journal:  Am J Hum Genet       Date:  1997-06       Impact factor: 11.025

6.  The clinical spectrum of congenital contractural arachnodactyly. A case with congenital heart disease.

Authors:  E H Lipson; C Viseskul; J Herrmann
Journal:  Z Kinderheilkd       Date:  1974

7.  Congenital contractural arachnodactyly.

Authors:  M S Hale; H D Rodman; J Lipshin
Journal:  West J Med       Date:  1974-01

8.  Molecular heterogeneity: a clinical dilemma. Clinical heterogeneity: a molecular dilemma.

Authors:  M Godfrey
Journal:  Am J Hum Genet       Date:  1993-07       Impact factor: 11.025

Review 9.  The molecular genetics of Marfan syndrome and related disorders.

Authors:  P N Robinson; E Arteaga-Solis; C Baldock; G Collod-Béroud; P Booms; A De Paepe; H C Dietz; G Guo; P A Handford; D P Judge; C M Kielty; B Loeys; D M Milewicz; A Ney; F Ramirez; D P Reinhardt; K Tiedemann; P Whiteman; M Godfrey
Journal:  J Med Genet       Date:  2006-03-29       Impact factor: 6.318

10.  Importance of the clinical recognition of Loeys-Dietz syndrome in the neonatal period.

Authors:  Anji T Yetman; Rebecca S Beroukhim; Dunbar D Ivy; David Manchester
Journal:  Pediatrics       Date:  2007-05       Impact factor: 7.124
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