Literature DB >> 5557609

Congenital contractural arachnodactyly. A heritable disorder of connective tissue.

R K Beals, F Hecht.   

Abstract

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Year:  1971        PMID： 5557609

Source DB:  PubMed          Journal:  J Bone Joint Surg Am        ISSN： 0021-9355            Impact factor:   5.284


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  32 in total

1.  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

2.  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

Review 3.  Extracellular matrix molecules: potential targets in pharmacotherapy.

Authors:  Hannu Järveläinen; Annele Sainio; Markku Koulu; Thomas N Wight; Risto Penttinen
Journal:  Pharmacol Rev       Date:  2009-06       Impact factor: 25.468

4.  Parental somatic and germ-line mosaicism for a FBN2 mutation and analysis of FBN2 transcript levels in dermal fibroblasts.

Authors:  E A Putnam; E S Park; C M Aalfs; R C Hennekam; D M Milewicz
Journal:  Am J Hum Genet       Date:  1997-04       Impact factor: 11.025

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.  A constitutional disorder of connective tissue suggesting a defect in collagen biosynthesis.

Authors:  W N Meigel; P K Müller; B F Pontz; N Sörensen; J Spranger
Journal:  Klin Wochenschr       Date:  1974-10-01

8.  Congenital contractural arachnodactyly.

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

9.  Seizures as an Atypical Feature of Beal's Syndrome.

Authors:  Nazreen B K Jaman; Abeer Al-Sayegh
Journal:  Sultan Qaboos Univ Med J       Date:  2016-08-19

10.  Contractural arachnodactyly with mitral regurgitation and iridodonesis.

Authors:  I C Huggon; J P Burke; J F Talbot
Journal:  Arch Dis Child       Date:  1990-03       Impact factor: 3.791
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