Work

A novel frameshift deletion in PLS3 causing severe primary osteoporosis

Year: 2018

Type: article

Study design: Case Report

Source: Journal of Human Genetics

DOI: 10.1038/s10038-018-0472-5

Authors: Alice Costantini, Panagiotis Ν. Krallis, Anders Kämpe, Emmanouil M. Karavitakis, Fulya Taylan, Outi Mäkitie, Artemis Doulgeraki

Institutions: Karolinska Institutet, Children's Hospital Agia Sophia, Chania General Hospital ”St. George”, Karolinska University Hospital, University of Helsinki, Helsinki University Hospital, Helsinki Children's Hospital, Institute of Child Health

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

Funders: Folkhälsanin Tutkimussäätiö, Academy of Finland, Vetenskapsrådet, Samfundet Folkhälsan, Sigrid Juséliuksen Säätiö, Novo Nordisk Fonden

Award: G8830706565

OpenAlex ID: W2806586345

FWCI: 1.704

Cites: 16

Cited by: 27

Related to: 10