Work

X/Y translocation in a family with X‐linked ichthyosis, chondrodysplasia punctata, and mental retardation: DNA analysis reveals deletion of the steroid sulphatase gene and translocation of its Y pseudogene

Year: 1988

Type: article

Study design: Case Report

Source: Clinical Genetics

DOI: 10.1111/j.1399-0004.1988.tb02612.x

Authors: A. Ballabio, G. Parenti, R. Carrozzo, G. Coppa, L. Felici, V. Migliori, M. Silengo, P. Franceschini, G. Andria

Institutions: University of Naples Federico II, University of Turin, University of Reggio Calabria

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: W2159685482

FWCI: 3.364

Cites: 31

Cited by: 55

Related to: 10