Areej Taha Elawad
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View article: Delay in diagnosis of testicular feminization in a child with auto-immune polyendocrine syndrome type-1 (APS-1): Who is responsible?
Delay in diagnosis of testicular feminization in a child with auto-immune polyendocrine syndrome type-1 (APS-1): Who is responsible? Open
Complete Androgen Insensitivity Syndrome (CAIS) is a rare X-linked recessive disorder. Patients have 46 XY karyotype, and the external genitalia is of a normal female. In this manuscript, we describe a nine year old child diagnosed at thre…
View article: Delay in diagnosis of testicular feminization in a child with auto-immune polyendocrine syndrome type-1 (APS-1): Who is responsible?
Delay in diagnosis of testicular feminization in a child with auto-immune polyendocrine syndrome type-1 (APS-1): Who is responsible? Open
Complete Androgen Insensitivity Syndrome (CAIS) is a rare X-linked recessive disorder. Patients have 46 XY karyotype, and the external genitalia is of a normal female. In this manuscript, we describe a nine year old child diagnosed at thre…
View article: Diversity of Phenotype and Genetic Etiology of 23 Cystinuria Saudi Patients: A Retrospective Study
Diversity of Phenotype and Genetic Etiology of 23 Cystinuria Saudi Patients: A Retrospective Study Open
Background: Cystinuria is an inborn error of metabolism that manifests with renal stones due to defective renal epithelial cell transport of cystine which resulted from pathogenic variants in the SLC3A1 and/or SLC7A9 genes. Among nephrolit…