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...
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| Principais autores: | , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Wiley
2026-01-01
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| Colecção: | Case Reports in Pediatrics |
| Acesso em linha: | http://dx.doi.org/10.1155/crpe/2247764 |
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