Work

Phenotypic heterogeneity in DYNC2H1-related short-rib thoracic dysplasia: antenatal indicators and postnatal outcomes

Year: 2025

Type: article

Source: Journal of Medical Genetics

DOI: 10.1136/jmg-2024-110369

Authors: Nikhil Pattani, Nour Elkhateeb, Aakash Joshi, Juan Carlos Del Rey Jimenez, Joy L Barber, Pilar Palmrich, Helen Firth, Sarju G Mehta, Leila Amel Riazat Kesh, Jennifer Campbell, Jenny Carmichael, Sahar Mansour

Institutions: Cambridge University Hospitals NHS Foundation Trust, St George's Hospital, St George’s University Hospitals NHS Foundation Trust, Medical University of Vienna, Wellcome Sanger Institute, Leeds Teaching Hospitals NHS Trust, St George's, University of London

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: W4409573310

FWCI: 0.533

Cites: 33

Cited by: 1

Related to: 10