Literature DB >> 4963592

[Metatrophic dwarfism].

P Maroteaux, J Spranger, H R Wiedemann.   

Abstract

Mesh：

Year:  1966        PMID： 4963592

Source DB:  PubMed          Journal:  Arch Kinderheilkd        ISSN： 0003-9179


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  22 in total

Review 1.  Platyspondyly in childhood.

Authors:  K Kozlowski
Journal:  Pediatr Radiol       Date:  1974

2.  Prenatal diagnosis of metatropic dysplasia: beware of the pseudo-bowing sign.

Authors:  Catherine Garel; Amira Dhouib; Chiara Sileo; Valérie Cormier-Daire; Hubert Ducou le Pointe
Journal:  Pediatr Radiol       Date:  2014-03

3.  A form of metatropic dwarfism in two brothers.

Authors:  P Crowle; R Astley; J Insley
Journal:  Pediatr Radiol       Date:  1976-04-14

Review 4.  Orthopaedic aspects of the chondrodystrophies. The dwarf and his orthopaedic problems.

Authors:  M A Nelson
Journal:  Ann R Coll Surg Engl       Date:  1970-10       Impact factor: 1.891

5.  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

6.  Some lethal and semilethal forms of disproportionate short stature.

Authors:  J A Bailey
Journal:  J Natl Med Assoc       Date:  1971-09       Impact factor: 1.798

7.  Dysplasia spondyloepiphysaria congenita and related generalized skeletal dysplasias among children with severe visual handicaps.

Authors:  G R Fraser; A I Friedmann; P Maroteaux; A M Glen-Bott; U Mittwoch
Journal:  Arch Dis Child       Date:  1969-08       Impact factor: 3.791

Review 8.  The importance of conventional radiography in the mutational analysis of skeletal dysplasias (the TRPV4 mutational family).

Authors:  Stefan F Nemec; Daniel H Cohn; Deborah Krakow; Vincent A Funari; David L Rimoin; Ralph S Lachman
Journal:  Pediatr Radiol       Date:  2011-08-24

9.  Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia.

Authors:  Deborah Krakow; Joris Vriens; Natalia Camacho; Phi Luong; Hannah Deixler; Tara L Funari; Carlos A Bacino; Mira B Irons; Ingrid A Holm; Laurie Sadler; Ericka B Okenfuss; Annelies Janssens; Thomas Voets; David L Rimoin; Ralph S Lachman; Bernd Nilius; Daniel H Cohn
Journal:  Am J Hum Genet       Date:  2009-02-19       Impact factor: 11.025

10.  Metatropic dysplasia lethal variants.

Authors:  Christine M Hall; Nursel H Elçioglu
Journal:  Pediatr Radiol       Date:  2003-10-18
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