Work

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

Year: 2024

Type: article

Abstract: Peer reviewed: True

Source: Apollo (University of Cambridge)

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

Institutions: St George’s University Hospitals NHS Foundation Trust, Cambridge 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: Genetic and Kidney Cyst Diseases

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

Funders: Wellcome Trust, European Bioinformatics Institute

Award: G3724418959

OpenAlex ID: W7079206501

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