A Rare Case of Cystic Hygroma and Familial Nystagmus in a Newborn with SHOC2 Gene Mutation
Cystic hygroma (CH) is a lymphatic malformation commonly associated with various genetic disorders, including RASopathies-syndromes caused by mutations in the RAS-MAPK signaling pathway. We present a neonate referred to our center due to CH and dysmorphic facial features. During follow-up, intervent...
I tiakina i:
| Ngā kaituhi matua: | , , , , , |
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| Hōputu: | Artigo |
| Reo: | Inglês |
| I whakaputaina: |
Izmir Dr. Behcet Uz Children’s Hospital
2025-08-01
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| Rangatū: | Journal of Behçet Uz Children's Hospital |
| Ngā marau: | |
| Urunga tuihono: | https://behcetuzdergisi.com/articles/a-rare-case-of-cystic-hygroma-and-familial-nystagmus-in-a-newborn-with-lessemgreatershoc2lessemgreater-gene-mutation/doi/jbuch.galenos.2025.95770 |
| Ngā Tūtohu: |
Kāore He Tūtohu, Me noho koe te mea tuatahi ki te tūtohu i tēnei pūkete!
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