Perfectly Parker

A little blog about a wonderful child

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November 27, 2023 personalparadox

Mondays are for PT

November 22, 2023 strangevistas

One small step for Parker…

October 3, 2023 personalparadox

So, a few things

July 11, 2023July 11, 2023 strangevistas

The second (and hopefully last) EUA

May 8, 2023 strangevistas

15 month update

April 24, 2023 strangevistas

April Update

April 5, 2023April 5, 2023 personalparadox

Whirlwind Week

March 1, 2023March 1, 2023 strangevistas

Retinopathy examination update

February 16, 2023 personalparadox

Strabismus follow up

February 10, 2023 personalparadox

Strabismus Surgery

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What is CTNNB1 Syndrome?

CTNNB1 Syndrome is an extremely rare genetic mutation with only about 300 known cases worldwide. The CTNNB1 portion of the third chromosome in human DNA is responsible for the creation of beta-catenin, a protein that plays a role in cell connections and communication. There is a wide spectrum of mutations that are possible, resulting a span of different symptomology, but many who suffer from CTNNB1 Syndrome suffer from strabismus, dystonia, and physical and intellectual development issues, include speech and walking.

You can learn more about CTNNB1 Syndrome here.

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