Work

A Novel Homozygous Q334X Mutation in the HSD3B2 Gene Causing Classic 3β-Hydroxysteroid Dehydrogenase Deficiency: An Unexpected Diagnosis after a Positive Newborn Screen for 21-Hydroxylase Deficiency

Year: 2012

Type: article

Study design: Case Report

Source: Hormone Research in Paediatrics

DOI: 10.1159/000336004

Authors: Debra D. Jeandron, Taninee Sahakitrungruang

Institutions: University of Southern California, Children's Hospital Los Angeles, Chulalongkorn University

Language: English

Topic: Sexual Differentiation and Disorders

Subfield: Endocrinology, Diabetes and Metabolism

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: closed

Funder: Thailand Research Fund

OpenAlex ID: W1975504419

FWCI: 1.874

Cites: 20

Cited by: 28

Related to: 10