Literature DB >> 592353

Probable autosomal recessive Marfan syndrome.

K Fried, D Krakowsky.   

Abstract

A probable autosomal recessive mode of inheritance is described in a family with two affected sisters. The sisters showed the typical picture of Marfan syndrome and were of normal intelligence. Both parents and all four grandparents were personally examined and found to be normal. Homocystinuria was ruled out on repeated examinations. This family suggests genetic heterogeneity in Marfan syndrome and that in some rare families the mode of inheritance may be autosomal recessive.

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Year:  1977        PMID: 592353      PMCID: PMC1013621          DOI: 10.1136/jmg.14.5.359

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


  1 in total

1.  Polysyndactyly and Marfan's syndrome.

Authors:  K Fried; G Mundel
Journal:  J Med Genet       Date:  1974-06       Impact factor: 6.318

  1 in total
  5 in total

Review 1.  Molecular abnormalities of collagen.

Authors:  F M Pope; A C Nicholls
Journal:  J Clin Pathol Suppl (R Coll Pathol)       Date:  1978

2.  Segregation of all four major fibrillar collagen genes in the Marfan syndrome.

Authors:  D J Ogilvie; B P Wordsworth; L M Priestley; R Dalgleish; J Schmidtke; B Zoll; B C Sykes
Journal:  Am J Hum Genet       Date:  1987-12       Impact factor: 11.025

3.  Homozygosity for autosomal dominant Marfan syndrome.

Authors:  J Chemke; R Nisani; A Feigl; R Garty; M Cooper; Y Bårash; D Duksin
Journal:  J Med Genet       Date:  1984-06       Impact factor: 6.318

4.  The clinical spectrum of missense mutations of the first aspartic acid of cbEGF-like domains in fibrillin-1 including a recessive family.

Authors:  Yvonne Hilhorst-Hofstee; Marry E B Rijlaarsdam; Arthur J H A Scholte; Marietta Swart-van den Berg; Michel I M Versteegh; Iris van der Schoot-van Velzen; Hans-Joachim Schäbitz; Emilia K Bijlsma; Marieke J Baars; Wilhelmina S Kerstjens-Frederikse; Jacques C Giltay; Ben C Hamel; Martijn H Breuning; Gerard Pals
Journal:  Hum Mutat       Date:  2010-12       Impact factor: 4.878

5.  Autosomal dominant Marfan syndrome caused by a previously reported recessive FBN1 variant.

Authors:  Eline Overwater; Rifka Efrat; Daniela Q C M Barge-Schaapveld; Phillis Lakeman; Marjan M Weiss; Alessandra Maugeri; J Peter van Tintelen; Arjan C Houweling
Journal:  Mol Genet Genomic Med       Date:  2018-11-28       Impact factor: 2.183

  5 in total

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