CSULB Urofacial Syndrome Disease Gene Discussion Report

Description

Disease Gene Discussion

How does the non-mutant (wildtype) form of your gene normally function?

How do mutant alleles of your gene cause disease symptoms?

What treatments are available?

Do these treatments alleviate symptoms or interfere with the genetic mechanism that causes the symptoms?

Describe genetic tests for your disease gene

REFERENCES CITED Should be in alphabetical order. Minimum of 10 citations needed. All references must be used at least once as an in-text citation. Please use the following format and include annotations:

S.J. Micheletti et al., (2020) Genetic consequences of the transatlantic slave trade in the Americas, American Journal of Human Genetics, doi:10.1016/j.ajhg.2020.06.012 (Annotation goes here: describe why this paper was valuable.)

The doi is an abbreviation for digital object identifier and is the most direct way to find a reference. Some older papers may not have a doi. If this is the case use volume number and page numbers separated by a colon, for example 72: 45-56. If there are one (or two) authors, list one (or both) names and do not add “et al.”, which is an abbreviation for et alia (“and others”). If there are more than two authors, list first author followed by et al.

https://www.omim.org/entry/236730?search=%22urofacial%20syndrome%22&highlight=%22urofacial%20%28syndromic%7Csyndrome%29%22#molecularGenetics

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