HIGHLIGHTS
- who: Yukino Kawanami and collaborators from the Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan have published the article: Case Report 4q25 Microdeletion with Axenfeld-Rieger Syndrome and Developmental Delay, in the Journal: Case Reports in Genetics of 22/08/2022
- what: The authors reported a case of multiple malformations and developmental delay diagnosed with a 4q25 microdeletion leading to ARS.
- future: Studies are needed to determine the phenotypes of the microdeletions.
SUMMARY
Haploinsufciency of multiple genes due to chromosomal microdeletion is known to cause various . . .
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