Work

Two families, two pathways: a case series of 46, XY DSD with 17α-hydroxylase deficiency and isolated 17,20-lyase deficiency due to novel CYB5A variant

Year: 2025

Type: article

Study design: Case Report

Source: Journal of Pediatric Endocrinology and Metabolism

DOI: 10.1515/jpem-2024-0613

Authors: Rakesh Garg, Manasvini Bhatt, Ashutosh Kumar Arya, Viveka P. Jyotsna, Rajesh Khadgawat

Institution: All India Institute of Medical Sciences

Language: English

Topic: Sexual Differentiation and Disorders

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W4408775561

FWCI: 0.783

Cites: 22

Cited by: 3

Related to: 10