Tricho-rhino-phalangeal type I syndrome and mental retardation: Identification of a novel mutation in the TRPS1 gene-Reference-Cited by-同舟云学术

Tricho-rhino-phalangeal type I syndrome and mental retardation: Identification of a novel mutation in the TRPS1 gene

Published:2007-10 Issue:1 Volume:48 Page:61-63
ISSN:0923-1811
Container-title:Journal of Dermatological Science
language:en
Short-container-title:Journal of Dermatological Science

Author:

Gonzalez-Huerta Luz M.,Cuevas-Covarrubias Sergio A.,Messina-Baas Olga M.

Publisher

Elsevier BV

Subject

Dermatology,Molecular Biology,Biochemistry

Reference10 articles.

1. Tricho-rhino-phalangeal syndrome;Giedion;Helv Paediatr Acta,1966

2. The tricho-rhinophalangeal syndrome with exostoses (or Langer-Giedion syndrome): Four additional patients without mental retardation and review of the literature;Langer;Am J Med Genet,1984

3. The Sugio-Kajii syndrome, proposed tricho-rhino-phalangeal syndrome type III;Niikawa;Am J Med Genet,1986

4. Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III;Lüdecke;Am J Hum Genet,2001

5. Autosomal-dominant transmission of the tricho-rhino-phalangeal syndrome. Report of 4 unrelated families, review of 60 cases;Giedion;Helv Paediatr Acta,1973

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1. Association of Trichorhinophalangeal Syndrome and Loose Anagen Syndrome: A Case Report;Skin Appendage Disorders;2020

2. TRPS1 gene alterations in human subependymoma;Journal of Neuro-Oncology;2017-05-20

3. Two cases of Legg-Perthes and intellectual disability in Tricho-Rhino-Phalangeal syndrome type 1 associated with novel TRPS1 mutations;American Journal of Medical Genetics Part A;2017-03-03

4. Co-segregation of trichorhinophalangeal syndrome with a t(8;13)(q23.3;q21.31) familial translocation that appears to increase TRPS1 gene expression;Human Genetics;2013-07-09

5. A novel nonsense mutation in the TRPS1 gene in a case of trichorhinophalangeal syndrome type I;Dermatologica Sinica;2011-03