An intragenic duplication of TRPS1 leading to abnormal transcripts and causing trichorhinophalangeal syndrome type I

Trichorhinophalangeal syndrome type I (TRPSI) is a rare disorder that causes distinctive ectodermal, facial, and skeletal features affecting the hair (tricho-), nose (rhino-), and fingers and toes (phalangeal) and is inherited in an autosomal dominant pattern. TRPSI is caused by loss of function var...

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Bibliografiske detaljer
Udgivet i:Cold Spring Harb Mol Case Stud
Main Authors: Zepeda-Mendoza, Cinthya J., Cousin, Margot A., Basu, Shubham, Jenkinson, Garrett, Oliver, Gavin, Pittock, Siobhan T., Baughn, Linda B., Klee, Eric W., Babovic-Vuksanovic, Dusica
Format: Artigo
Sprog:Inglês
Udgivet: Cold Spring Harbor Laboratory Press 2019
Fag:
Research Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6913153/
https://ncbi.nlm.nih.gov/pubmed/31662300
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a004655
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