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Novel PIK3R1 mutation of SHORT syndrome: A case report with a 6-month follow up

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1. Vibhor 10 Jun 2026
  
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  Novel PIK3R1 mutation of SHORT syndrome: A case report with a 6‐month follow up
  
  General Gene:PIK3R1 HGNC:8979 PMID:33742773 Disease: SHORT syndrome InheritancePattern: uncertain (adopted) Prevalence: Not specified Penetrance: Not assessed in this article Ab Deficiencies VCEP
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Ab Deficiencies VCEP

Penetrance: Not assessed in this article

General

Gene:PIK3R1

Prevalence: Not specified

Disease: SHORT syndrome

InheritancePattern: uncertain (adopted)

PMID:33742773

HGNC:8979

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Vibhor

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pmc.ncbi.nlm.nih.gov/articles/PMC8504897/