Work

Diaphanospondylodysostosis and ischiospinal dysostosis, evidence for one disorder with variable expression in a patient who has survived to age 9 years

Year: 2017

Type: article

Study design: Case Report

Source: American Journal of Medical Genetics Part A

DOI: 10.1002/ajmg.a.38395

Authors: Janet M. Legare, Kristin Seaborg, Jennifer Laffin, Philip F. Giampietro

Institutions: University of Wisconsin–Madison, Drexel University

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: W2747578781

FWCI: 0.363

Cites: 17

Cited by: 10

Related to: 10