| Original language | English |
|---|---|
| Pages (from-to) | 68-70 |
| Number of pages | 3 |
| Journal | Clinical Dysmorphology |
| Volume | 34 |
| Issue number | 3 |
| DOIs | |
| State | Published - 01 Jul 2025 |
| Externally published | Yes |
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A de novo missense variant Ser219Pro in PPP2R1A leads to macrocephaly in Houge-Janssens syndrome type 2
- Ana M. Zarante-Bahamon
- , María C. Cortés-Rojas
- , Jorge L. Ramon-Gómez
- Instituto Roosevelt
- Hospital Universitario San Ignacio
- Biotecnología y genética S.A.S.
- Hospital Militar Central
Research output: Contribution to journal › Article › peer-review
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