New publication
Genes & inheritance
1 supporting source
confidence 97%
novelty 75%
A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization
A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization This article presents the first reported familial case of 17q12 recurrent deletion syndrome in Russia, involving a female patient with diabetes and her daughter diagnosed with atypical autism without intellectual disability.
How this was derived
Indexed from **openalex** on 2026-11-13 (relevance 1.00, tier peer_reviewed).
Generated 2026-11-13, last changed
yesterday. Dedup key newdoc:522.
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Evidence (1 quote)
A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization
peer_reviewed
· published 2026-05-12
· live page
A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization This article presents the first reported familial case of 17q12 recurrent deletion syndrome in Russia, involving a female patient with diabetes and her daughter diagnosed with atypical autism without intellectual disability.
Supporting documents (1)
| Article | Source | Published | Seen | Relevance |
|---|---|---|---|---|
| A familial case report of 17q12 recurrent deletion syndrome: clinic... | openalex | 2026-05-12 | yesterday | 1.00 |