Literature DB >> 13318598

[Peculiar constitutional anomalies in 2 sisters and their relations to recent findings in evolutional pathology].

G KLINGMULLER.   

Abstract

Keywords:  ABNORMALITIES; HAIR/diseases

Mesh：

Year:  1956        PMID： 13318598

Source DB:  PubMed          Journal:  Hautarzt        ISSN： 0017-8470            Impact factor:   0.751


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  5 in total

1.  The tricho-rhino-phalangeal syndrome.

Authors:  D D Weaver; M M Cohen; D W Smith
Journal:  J Med Genet       Date:  1974-09       Impact factor: 6.318

2.  Tricho-rhino-phalangeal syndrome. The first case in Japan.

Authors:  N Fukushima; M Anakura; S Arashima; I Matsuda; T Ohsawa
Journal:  Hum Genet       Date:  1976-05-19       Impact factor: 4.132

3.  Somatic mosaicism in trichorhinophalangeal syndrome: a lesson for genetic counseling.

Authors:  Carole Corsini; Martin Gencik; Marjolaine Willems; Eva Decker; Elodie Sanchez; Jacques Puechberty; Anouck Schneider; Manon Girard; Patrick Edery; Patricia Bretonnes; Jérôme Cottalorda; Geneviève Lefort; Claire Jeandel; Pierre Sarda; David Genevieve
Journal:  Eur J Hum Genet       Date:  2013-04-10       Impact factor: 4.246

4.  Novel Frameshift Mutation in TRPS1 in a Ukrainian Patient with Trichorhinophalangeal Syndrome Type I.

Authors:  Yuliya Ovcharenko; Yuval Ramot
Journal:  Int J Trichology       Date:  2013-07

5.  A novel TRPS1 gene mutation causing trichorhinophalangeal syndrome with growth hormone responsive short stature: a case report and review of the literature.

Authors:  Lina Merjaneh; John S Parks; Andrew B Muir; Doris Fadoju
Journal:  Int J Pediatr Endocrinol       Date:  2014-08-15
  5 in total

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