Literature DB >> 3989835

Severe pseudoachondroplasia with parental consanguinity.

I D Young, J R Moore.   

Abstract

A boy who showed features of the severe form of pseudoachondroplasia, whose parents were first cousins, is reported. Published reports supporting the existence of an autosomal recessive form of this disorder are reviewed.

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Year:  1985        PMID： 3989835      PMCID： PMC1049406          DOI： 10.1136/jmg.22.2.150

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


  7 in total

1.  Pseudoachondroplasia.

Authors:  J G Hall
Journal:  Birth Defects Orig Artic Ser       Date:  1975

2.  The severe recessive form of pseudoachondroplastic dysplasia.

Authors:  N R Dennis; P Renton
Journal:  Pediatr Radiol       Date:  1975-06-13

3.  Pseudoachondroplasia, a report of 13 cases.

Authors:  N G Heselson; B J Cremin; P Beighton
Journal:  Br J Radiol       Date:  1977-07       Impact factor: 3.039

4.  Variable expressivity in the skeletal dysplasias.

Authors:  D L Rimoin
Journal:  Birth Defects Orig Artic Ser       Date:  1979

5.  Difficulties in the classification of the epiphyseal dysplasias.

Authors:  R S Lachman; D L Rimoin; J G Hall; K Kozlowski; L O Langer; C I Scott; J Spranger
Journal:  Birth Defects Orig Artic Ser       Date:  1975

6.  Growth curves for height for diastrophic dysplasia, spondyloepiphyseal dysplasia congenita, and pseudoachondroplasia.

Authors:  W A Horton; J G Hall; C I Scott; R E Pyeritz; D L Rimoin
Journal:  Am J Dis Child       Date:  1982-04

7.  The biochemical defect of pseudoachondroplasia.

Authors:  V Stanescu; P Maroteaux; R Stanescu
Journal:  Eur J Pediatr       Date:  1982-05       Impact factor: 3.183
  7 in total
  3 in total

Review 1.  Development of pseudo-achondroplasia over a 30-year period in an adult patient.

Authors:  J M Nores; P Maroteaux; J M Remy
Journal:  Clin Rheumatol       Date:  1989-06       Impact factor: 2.980

2.  Pseudoachondroplasia: clinical diagnosis at different ages and comparison of autosomal dominant and recessive types. A review of 32 patients (26 kindreds).

Authors:  R Wynne-Davies; C M Hall; I D Young
Journal:  J Med Genet       Date:  1986-10       Impact factor: 6.318

3.  Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution.

Authors:  Gail C Jackson; Laureane Mittaz-Crettol; Jacqueline A Taylor; Geert R Mortier; Juergen Spranger; Bernhard Zabel; Martine Le Merrer; Valerie Cormier-Daire; Christine M Hall; Amaka Offiah; Michael J Wright; Ravi Savarirayan; Gen Nishimura; Simon C Ramsden; Rob Elles; Luisa Bonafe; Andrea Superti-Furga; Sheila Unger; Andreas Zankl; Michael D Briggs
Journal:  Hum Mutat       Date:  2011-10-31       Impact factor: 4.878
  3 in total

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