4q25 Microdeletion with Axenfeld-Rieger Syndrome and Developmental Delay

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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Bibliographic Details
Main Authors:	Yukino Kawanami, Tomoko Horinouchi, Naoya Morisada, Takeshi Kato, Kandai Nozu
Format:	Article
Language:	English
Published:	Hindawi Limited 2023-01-01
Series:	Case Reports in Genetics
Online Access:	http://dx.doi.org/10.1155/2023/4592114

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