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...

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Bibliografiske detaljer

Principais autores:	Suzan Süncak, Filiz Hazan, Coşkun Armağan, Ceren Yılmaz Uzman, Semra Gürsoy, Özlem Giray Bozkaya
Format:	Artigo
Sprog:	Inglês
Udgivet:	Izmir Dr. Behcet Uz Children’s Hospital 2025-08-01
Serier:	Journal of Behçet Uz Children's Hospital
Fag:	shoc2 cystic hygroma noonan-like syndrome with loose anagen hair ser2gly
Online adgang:	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
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