Gene mutation caused classic bladder exstrophy
Type of mutation/genotype | BEEC type and associated anomalies | References |
---|---|---|
Shh and FGF 8 | CBE Developmental disorders of the genital tubercle Absent cloacal membrane A cloacal membrane is formed but directed caudally |
[17] |
BMP | CBE Deformity or failure of the body wall closure |
[18] |
Alx 4 | CBE Defects affecting developmental processes in the formation of the ventral body wall External genital organs, such as phenotypic abnormalities of the bladder with epispadias concomitant with defects of the upper genital tubercle |
[17] |
Gli 3 | CBE Damage to the body wall covering |
[17] |
ISL 1 | CBE | [18] |
BEEC, bladder-exstrophy-epispadias complex; CBE, classic bladder exstrophy.
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