Cargando…
Clinical characteristics and genetic expansion of 46,XY disorders of sex development children in a Chinese prospective study
Diagnosis and management strategy of disorders of sex development (DSD) are difficult and various due to heterogeneous phenotype and genotype. Under widespread use of genomic sequencing technologies, multiple genes and mechanisms have been identified and proposed as genetic causes of 46,XY DSD. In t...
Autores principales: | Tang, Yijun, Chen, Yao, Wang, Jiayi, Zhang, Qianwen, Wang, Yirou, Xu, Yufei, Li, Xin, Wang, Jian, Wang, Xiumin |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Bioscientifica Ltd
2023
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10503230/ https://www.ncbi.nlm.nih.gov/pubmed/37493574 http://dx.doi.org/10.1530/EC-23-0029 |
Ejemplares similares
-
Molecular and Phenotypic Expansion of Alström Syndrome in Chinese Patients
por: Zhang, Qianwen, et al.
Publicado: (2022) -
Integrating clinical and genetic approaches in the diagnosis of 46,XY disorders of sex development
por: Kolesinska, Zofia, et al.
Publicado: (2018) -
A novel PIK3R1 mutation of SHORT syndrome in a Chinese female with diffuse thyroid disease: a case report and review of literature
por: Sun, Liying, et al.
Publicado: (2020) -
A novel CEP57 variant associated with mosaic variegated aneuploidy syndrome in a Chinese female presenting with short stature, microcephaly, brachydactyly, and small teeth
por: Feng, Biyun, et al.
Publicado: (2022) -
Behavioural Problems in Children with 46XY Disorders of Sex Development
por: M. Selveindran, Nalini, et al.
Publicado: (2017)