Work

The Combination of Chromosomal Reorganization and Inherited Point Mutation Has Led to the Development of a Rare Clinical Phenotype in a Patient with Disorder of Sex Differentiation and Neuromuscular Pathology

Year: 2022

Type: article

Study design: Case Report

Source: Cytology and Genetics

DOI: 10.3103/s0095452722050097

Authors: L. V. Popovych, A. V. Shatillo, N. B. Zelinska, L. V. Tavokina, O. V. Gorodna, G. B. Livshits, D. A. Sirokha, L. A. Livshits

Institutions: Institute of Neurology, Psychiatry and Narcology, National Academy of Medical Sciences of Ukraine, Ministry of Health, National Academy of Sciences of Ukraine, Institute of Molecular Biology and Genetics

Language: English

Topic: Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W4297859763

FWCI:

Cites: 24

Cited by:

Related to: 10