Trichorhinophalangeal syndrome: report of a novel familial TRPS1 mutation-Reference-Cited by-同舟云学术

Trichorhinophalangeal syndrome: report of a novel familial TRPS1 mutation

Published:2010-04 Issue:2 Volume:19 Page:98-100
ISSN:0962-8827
Container-title:Clinical Dysmorphology
language:en
Short-container-title:

Author:

Al-Dosari Mohammed S.,Alkuraya Fowzan S.

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Genetics(clinical),General Medicine,Pathology and Forensic Medicine,Anatomy,Pediatrics, Perinatology, and Child Health

Reference7 articles.

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2. A 4-megabase YAC contig that spans the Langer-Giedion syndrome region on human chromosome 8q24.1: use in refining the location of the trichorhinophalangeal syndrome and multiple exostoses genes (TRPS1 and EXT1);Hou;Genomics,1995

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

4. Deletion of the GATA domain of TRPS1 causes an absence of facial hair and provides new insights into the bone disorder in inherited tricho-rhino-phalangeal syndromes;Malik;Mol Cell Biol,2002

5. Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I;Momeni;Nat Genet,2000

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