Literature DB >> 7163293

Spondylo-Metaphyseal Dysplasia. (Report of 7 cases and essay of classification).

K Kozlowski, F A Beemer, G Bens, P F Dijkstra, G Iannaccone, D Emons, P Lopez-Ruiz, J Masel, O van Nieuwenhuizen, C Rodriguez-Barrionuevo.   

Abstract

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Mesh：

Year:  1982        PMID： 7163293

Source DB:  PubMed          Journal:  Prog Clin Biol Res        ISSN： 0361-7742


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  6 in total

1.  Spondyloenchondrodysplasia.

Authors:  H Menger; K Kruse; J Spranger
Journal:  J Med Genet       Date:  1989-02       Impact factor: 6.318

2.  Japanese type of spondylo-metaphyseal dysplasia.

Authors:  T Hasegawa; K Kozlowski; G Nishimura; H Hara; Y Hasegawa; T Aso; S Koto; T Nagai; Y Tsuchiya
Journal:  Pediatr Radiol       Date:  1994

Review 3.  Combined Phenotypes of Spondylometaphyseal Dysplasia-Kozlowski Type and Charcot-Marie-Tooth Disease Type 2C Secondary to a TRPV4 Pathogenic Variant.

Authors:  Eden Faye; Peggy Modaff; Richard Pauli; Janet Legare
Journal:  Mol Syndromol       Date:  2018-12-21

4.  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

5.  Spondylometaphyseal dysplasia, type VII.

Authors:  H B Diren; B Büyükgebiz; A Büyügebiz; T Pirnar
Journal:  Pediatr Radiol       Date:  1992

6.  TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families.

Authors:  Elena Andreucci; Salim Aftimos; Melanie Alcausin; Eric Haan; Warwick Hunter; Peter Kannu; Bronwyn Kerr; George McGillivray; R J McKinlay Gardner; Maria G Patricelli; David Sillence; Elizabeth Thompson; Margaret Zacharin; Andreas Zankl; Shireen R Lamandé; Ravi Savarirayan
Journal:  Orphanet J Rare Dis       Date:  2011-06-09       Impact factor: 4.123
  6 in total

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