Literature DB >> 6705261

Ehlers-Danlos syndrome type IV D: an autosomal recessive disorder.

H M Sulh, B Steinmann, V H Rao, G Dudin, J A Zeid, M Slim, V M Der Kaloustian.   

Abstract

Two siblings born to consanguineous parents are reported with typical clinical features of the Ehlers-Danlos syndrome type IV. However, their cultured skin fibroblasts synthesize and secrete procollagen type III in normal amounts and proportions. This is probably a new form of the Ehlers-Danlos syndrome with autosomal recessive inheritance classified as Ehlers-Danlos syndrome type IV D.

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Year:  1984        PMID: 6705261     DOI: 10.1111/j.1399-0004.1984.tb01990.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  4 in total

Review 1.  Ehlers-Danlos syndrome has varied molecular mechanisms.

Authors:  F M Pope; N P Burrows
Journal:  J Med Genet       Date:  1997-05       Impact factor: 6.318

Review 2.  Collagen genes and inherited connective tissue disease.

Authors:  K S Cheah
Journal:  Biochem J       Date:  1985-07-15       Impact factor: 3.857

3.  Ehlers-Danlos syndrome type IV: cosegregation of the phenotype to a COL3A1 allele of type III procollagen.

Authors:  P Tsipouras; P H Byers; R C Schwartz; M L Chu; D Weil; G Pepe; S B Cassidy; F Ramirez
Journal:  Hum Genet       Date:  1986-09       Impact factor: 4.132

4.  Vascular Ehlers-Danlos Syndrome in siblings with biallelic COL3A1 sequence variants and marked clinical variability in the extended family.

Authors:  Agnete Jørgensen; Toril Fagerheim; Svend Rand-Hendriksen; Per I Lunde; Torgrim O Vorren; Melanie G Pepin; Dru F Leistritz; Peter H Byers
Journal:  Eur J Hum Genet       Date:  2014-09-10       Impact factor: 4.246

  4 in total

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