Literature DB >> 4644462

[A rare lethal bone dysplasia with recessive autosomic transmission].

A De la Chapelle, P Maroteaux, N Havu, G Granroth.   

Abstract

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Mesh：

Year:  1972        PMID： 4644462

Source DB:  PubMed          Journal:  Arch Fr Pediatr        ISSN： 0003-9764


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  8 in total

1.  Weyers' ulnar ray/oligodactyly syndrome and the association of midline malformations with ulnar ray defects.

Authors:  P D Turnpenny; J C Dean; P Duffty; J A Reid; P Carter
Journal:  J Med Genet       Date:  1992-09       Impact factor: 6.318

2.  Achondrogenesis within the scope of connately manifested generalized skeletal dysplasias.

Authors:  H R Wiedemann; W Remagen; H A Hienz; R J Gorlin; P Maroteaux
Journal:  Z Kinderheilkd       Date:  1974

Review 3.  Atelosteogenesis type 2.

Authors:  R Newbury-Ecob
Journal:  J Med Genet       Date:  1998-01       Impact factor: 6.318

4.  A novel mutation in the sulfate transporter gene SLC26A2 (DTDST) specific to the Finnish population causes de la Chapelle dysplasia.

Authors:  L Bonafé; J Hästbacka; A de la Chapelle; A B Campos-Xavier; C Chiesa; A Forlino; A Superti-Furga; A Rossi
Journal:  J Med Genet       Date:  2008-08-15       Impact factor: 6.318

5.  Congenital bowing of the long bones. A review and phenotype analysis of 13 undiagnosed cases.

Authors:  B D Hall; J Spranger
Journal:  Eur J Pediatr       Date:  1980-03       Impact factor: 3.183

6.  Morphologic studies in the skeletal dysplasias.

Authors:  D O Sillence; W A Horton; D L Rimoin
Journal:  Am J Pathol       Date:  1979-09       Impact factor: 4.307

7.  A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain of aggrecan.

Authors:  Stuart W Tompson; Barry Merriman; Vincent A Funari; Maryline Fresquet; Ralph S Lachman; David L Rimoin; Stanley F Nelson; Michael D Briggs; Daniel H Cohn; Deborah Krakow
Journal:  Am J Hum Genet       Date:  2008-12-24       Impact factor: 11.025

Review 8.  Skeletal Dysplasias Caused by Sulfation Defects.

Authors:  Chiara Paganini; Chiara Gramegna Tota; Andrea Superti-Furga; Antonio Rossi
Journal:  Int J Mol Sci       Date:  2020-04-14       Impact factor: 5.923
  8 in total

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