Literature DB >> 13680384

Tricho-rhino-phalangeal syndrome type I in a Japanese boy.

Tomohiro Kamoda1, Akira Matsui.   

Abstract

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Year:  2003        PMID： 13680384     DOI： 10.1007/s00431-003-1305-9

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


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  6 in total

1.  Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I.

Authors:  P Momeni; G Glöckner; O Schmidt; D von Holtum; B Albrecht; G Gillessen-Kaesbach; R Hennekam; P Meinecke; B Zabel; A Rosenthal; B Horsthemke; H J Lüdecke
Journal:  Nat Genet       Date:  2000-01       Impact factor: 38.330

2.  The trichorhinophalangeal syndrome: study of 16 patients in one family.

Authors:  A H Felman; J L Frias
Journal:  AJR Am J Roentgenol       Date:  1977-10       Impact factor: 3.959

3.  [Tricho-rhino-phalangeal syndrome].

Authors:  A Giedion
Journal:  Helv Paediatr Acta       Date:  1966-11

4.  Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III.

Authors:  H J Lüdecke; J Schaper; P Meinecke; P Momeni; S Gross; H Hirche; M J Abramowicz; B Albrecht; C Apacik; H J Christen; U Claussen; K Devriendt; E Fastnacht; A Forderer; U Friedrich; T H Goodship; M Greiwe; H Hamm; R C Hennekam; G K Hinkel; M Hoeltzenbein; H Kayserili; F Majewski; M Mathieu; R McLeod; A T Midro; U Moog; T Nagai; N Niikawa; K H Orstavik; E Plöchl; C Seitz; J Schmidtke; L Tranebjaerg; M Tsukahara; B Wittwer; B Zabel; G Gillessen-Kaesbach; B Horsthemke
Journal:  Am J Hum Genet       Date:  2000-12-07       Impact factor: 11.025

Review 5.  Trichorhinophalangeal syndrome type I in monozygotic twins discordant for hip pathology. Report on the morphological evolution of cone-shaped epiphyses and the unusual pattern of skeletal maturation.

Authors:  A Naselli; M Vignolo; E Di Battista; V Papale; G Aicardi; S Becchetti; P Tomà
Journal:  Pediatr Radiol       Date:  1998-11

6.  Genotype phenotype correlation in achondroplasia and hypochondroplasia.

Authors:  Y Matsui; N Yasui; T Kimura; N Tsumaki; H Kawabata; T Ochi
Journal:  J Bone Joint Surg Br       Date:  1998-11
  6 in total

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