PPP1R12A Mutation Presenting With Congenital Jejunal Atresia and Short Stature: A Pediatric Endocrinology Case Report
We report an 11-year-old Hispanic male with a PPP1R12A gene de novo heterozygous likely pathogenic mutation, p. (Gln13Arg) (CAG>CGG), c.38 A > G in Exon 1 (NM_002480.2), detected on whole-exome trio sequencing during his short-stature evaluation. His medical history is remarkable for congenital jeju...
I tiakina i:
| Ngā kaituhi matua: | , , , , |
|---|---|
| Hōputu: | Artigo |
| Reo: | Inglês |
| I whakaputaina: |
Wiley
2026-01-01
|
| Rangatū: | Case Reports in Pediatrics |
| Urunga tuihono: | http://dx.doi.org/10.1155/crpe/2247764 |
| Ngā Tūtohu: |
Kāore He Tūtohu, Me noho koe te mea tuatahi ki te tūtohu i tēnei pūkete!
|