Tricho-rhino-phalangeal syndrome type I (TRP I) due to an apparently balanced translocation involving 8q24-Reference-Cited by-同舟云学术

Tricho-rhino-phalangeal syndrome type I (TRP I) due to an apparently balanced translocation involving 8q24

Published:1993-02-15 Issue:4 Volume:45 Page:450-455
ISSN:0148-7299
Container-title:American Journal of Medical Genetics
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Marchau Fabienne E.,Van Roy Bernadette C.,Parizel Paul M.,Lambert Julien R.,De Canck Ilse,Leroy Jules G.,Gevaert Carine M.,Willems Patrick J.,Dumon Jan E.

Publisher

Wiley

Subject

Genetics(clinical)

Reference43 articles.

1. Tricho-Rhino-Phalangeal Dysplasia

2. Muscular dystrophy in girls with X;autosome translocations.

3. Integrity of the thyroglobulin locus in tricho-rhino-phalangeal syndrome II

4. Chromosome deletion and multiple cartilaginous exostoses

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1. Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome;European Journal of Medical Genetics;2015-05

2. New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene;BMC Medical Genetics;2014-05-02

3. 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

4. Rheumatologic and neurological events in an elderly patient with tricho-rhino-phalangeal syndrome type I;European Journal of Medical Genetics;2011-07

5. Chirurgische Therapie der Zapfenepiphysen an den proximalen Interphalangealgelenken beim Tricho-Rhino-Phalangealen Syndrom (TRPS) Typ I: Eine Familenübersicht anhand von drei Generationen;Zentralblatt für Chirurgie;2004-12