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GNB5-Related Neurodevelopmental Disorders

@gnb5-ndd.bsky.social

GNB5-NDD (GNB5-Related Neurodevelopmental Disorders) include IDDCA and LADCI, genetic conditions caused by having two mutant GNB5 genes. #RareDiseases IDDCA_GNB5 https://facebook.com/groups/iddca/

40 Followers  |  201 Following  |  5 Posts  |  Joined: 15.11.2024  |  1.4607

Latest posts by gnb5-ndd.bsky.social on Bluesky

I do not pretend to understand the science, but it seems like the GNB5 gene is involved in a lot of seemingly unrelated processes within the body. Maybe that’s an explanation for how mutations in that one gene cause such a variety and spectrum of disabilities.

20.02.2025 15:09 β€” πŸ‘ 0    πŸ” 0    πŸ’¬ 0    πŸ“Œ 0
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β€œ[T]he negative correlation between GNB5 and mast cell infiltration may indicate a role for GNB5 in mitigating inflammatory responses, which could otherwise exacerbate fibrosis”.

20.02.2025 15:09 β€” πŸ‘ 0    πŸ” 0    πŸ’¬ 1    πŸ“Œ 0
GNB5 G protein subunit beta 5 [Homo sapiens (human)] - Gene - NCBITwitterFacebookLinkedInGitHubNCBI Insights BlogTwitterFacebookYoutube

www.ncbi.nlm.nih.gov/gene/10681

24.11.2024 16:19 β€” πŸ‘ 0    πŸ” 0    πŸ’¬ 0    πŸ“Œ 0

We are the parents of a child with IDDCA, a rare genetic disorder caused by mutations in the GNB5 gene. We are looking to connect with other parents of children with GNB5 genetic disorders (including IDDCA and LADCI).

facebook.com/groups/iddca

15.11.2024 20:31 β€” πŸ‘ 0    πŸ” 0    πŸ’¬ 0    πŸ“Œ 0
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GNB5-Related Neurodevelopmental Disorders GNB5-NDD: Genetic disorders caused by mutations in the GNB5 gene, including IDDCA and LADCI.

Seeking parents of GNB5 gene disorder patients.

gnb5.wordpress.com

15.11.2024 20:21 β€” πŸ‘ 0    πŸ” 0    πŸ’¬ 0    πŸ“Œ 0

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