Work

Early prenatal presentation of the cartilage-hair hypoplasia / anauxetic dysplasia spectrum of disorders mimicking recurrent thanatophoric dysplasia

Year: 2021

Type: article

Study design: Case Report

Source: European Journal of Medical Genetics

DOI: 10.1016/j.ejmg.2021.104162

Authors: Christine M. Hall, Becky Liu, Andrea Haworth, Laura Reed, Jeremy Pryce, Sahar Mansour

Institutions: St George's, University of London, Great Ormond Street Hospital, St George’s University Hospitals NHS Foundation Trust, Congenica Ltd. (United Kingdom)

Language: English

Topic: Connective tissue disorders research

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W3128948129

FWCI:

Cites: 21

Cited by: 6

Related to: 10