Disorders of Sex Development in Individuals Harbouring MAMLD1 Variants: WES and Interactome Evidence of Oligogenic Inheritance
Mastermind-like domain-containing 1 (MAMLD1) has been shown to play an important role in the process of sexual development and is associated with 46,XY disorders of sex development (DSDs). However, the causative role of MAMLD1 variations in DSDs remains disputable. In this study, we have described a...
Main Authors: | Lele Li, Fenqi Gao, Lijun Fan, Chang Su, Xuejun Liang, ChunXiu Gong |
---|---|
Format: | Article |
Language: | English |
Published: |
Frontiers Media S.A.
2020-12-01
|
Series: | Frontiers in Endocrinology |
Subjects: | |
Online Access: | https://www.frontiersin.org/articles/10.3389/fendo.2020.582516/full |
Similar Items
-
Broad Phenotypes of Disorders/Differences of Sex Development in MAMLD1 Patients Through Oligogenic Disease
by: Christa E. Flück, et al.
Published: (2019-08-01) -
Clinical and molecular spectrum of 46,XY disorders of sex development that harbour MAMLD1 variations: case series and review of literature
by: Lele Li, et al.
Published: (2020-07-01) -
The mutational burden and oligogenic inheritance in Klippel-Feil syndrome
by: Ziquan Li, et al.
Published: (2020-04-01) -
Description of a novel variant in the MAMLD1 gene in isolated hypospadias
by: Nicolás Fernández, et al.
Published: (2018-01-01) -
MAMLD1 gene mutation in the incidence of hypospadias in the Chinese population
by: Zhuang Likai, et al.
Published: (2014-01-01)