Advance in research on the role of MAMLD1 gene in disorders of sex development / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 912-916, 2021.
Article
in Chinese
| WPRIM
| ID: wpr-921968
ABSTRACT
MAMLD1 gene has been implicated in 46,XY disorders of sex development (DSD) in recent years. Patients carrying MAMLD1 gene variants showed a "continuous spectrum" of simple micropenis, mild, moderate and severe hypospadias with micropenis, cryptorchidism, split scrotum and even complete gonadal dysplasia. The function of MAMLD1 gene in sexual development has not been fully elucidated, and its role in DSD has remained controversial. This article has reviewed recent findings on the role of the MAMLD1 gene in DSD, including the MAMLD1 gene, its encoded protein, genetic variants, clinical phenotype and possible pathogenic mechanism in DSD.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Phenotype
/
Disorders of Sex Development
/
Transcription Factors
/
Nuclear Proteins
/
Sexual Development
/
DNA-Binding Proteins
/
Mutation
Limits:
Humans
/
Male
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2021
Type:
Article
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