4q25 Microdeletion with Axenfeld-Rieger Syndrome and Developmental Delay

We encountered a case with congenital iris coloboma, omphalocele, and developmental delay with a 2.5 Mb deletion on chromosome 4q25 encompassing PITX2, leading to Axenfeld-Rieger syndrome (ARS), NEUROG2, and ANK2. ARS is characterized by the aplasia of the anterior eye, odontogenesis, and abdominal...

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Detalles Bibliográficos
Autores principales: Kawanami, Yukino, Horinouchi, Tomoko, Morisada, Naoya, Kato, Takeshi, Nozu, Kandai
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9935865/
https://www.ncbi.nlm.nih.gov/pubmed/36816813
http://dx.doi.org/10.1155/2023/4592114

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9935865/
https://www.ncbi.nlm.nih.gov/pubmed/36816813
http://dx.doi.org/10.1155/2023/4592114

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