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Weekly Site Update for 09/06/2016

September 6, 2016 thinkgenetic Leave a Comment

ThinkGenetic strives to create, update and review content regularly to ensure the information we provide is accurate, referenced and available 24/7 to our audience. If you wish to see your disease or disorder added or modified please contact us.

Below are the most recent content updates.

ThinkGenetic FaviconUpdated: Robinow syndrome

Robinow syndrome is an extremely rare skeletal dysplasia (bone abnormality) disorder that can affect both genders and usually presents with short stature, some skull and facial abnormalities, skeletal abnormalities, and sometimes genital abnormalities. Learn more.

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Updated: Gaucher disease

Gaucher disease was first described by Dr. Phillippe Gaucher in 1882. Gaucher disease is a lysosomal storage disease involving a deficiency (lacking) of the enzyme glucocerebrosidase (GBA). Learn more.

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Updated: Fragile X syndrome

Fragile X syndrome is a genetic condition that runs in families. It is the most common known genetic cause of intellectual disability and the most common known single-gene cause of autism. Learn more.

[Batch Update 2016-08-30]

Filed Under: Updates Tagged With: abnormalities, autism, dysplasia, Fragile X, Fragile X syndrome, Gaucher, Gaucher disease, GBA, Robinow, Robinow syndrome

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