Literature DB >> 144655

Achondrogenesis, type I.

G Beluffi.   

Abstract

Achondrogenesis is a rare form of lethal dwarfism. Usually discovered post partum, in a few instances only it has been diagnosed in utero. One such a case is here presented together with differential diagnosis with other forms of lethal dwarfism.

Mesh：

Year:  1977        PMID： 144655     DOI： 10.1055/s-0029-1230713

Source DB:  PubMed          Journal:  Rofo        ISSN： 1438-9010


  2 in total

1.  Achondrogenesis type I: light and electron-microscopic studies.

Authors:  G Molz; M A Spycher
Journal:  Eur J Pediatr       Date:  1980-06       Impact factor: 3.183

2.  Hypomorphic mutations of TRIP11 cause odontochondrodysplasia.

Authors:  Anika Wehrle; Tomasz M Witkos; Sheila Unger; Judith Schneider; John A Follit; Johannes Hermann; Tim Welting; Virginia Fano; Marja Hietala; Nithiwat Vatanavicharn; Katharina Schoner; Jürgen Spranger; Miriam Schmidts; Bernhard Zabel; Gregory J Pazour; Agnes Bloch-Zupan; Gen Nishimura; Andrea Superti-Furga; Martin Lowe; Ekkehart Lausch
Journal:  JCI Insight       Date:  2019-02-07
  2 in total

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