Work

Novel de novo heterozygous FGFR1 mutation in two siblings with Hartsfield syndrome: A case of gonadal mosaicism

Year: 2014

Type: article

Study design: Case Report

Source: American Journal of Medical Genetics Part A

DOI: 10.1002/ajmg.a.36621

Authors: Radhika Dhamija, Salman Kirmani, Xiangling Wang, Matthew J. Ferber, Eric D. Wieben, Konstantinos N. Lazaridis, Dusica Babovic‐Vuksanovic

Institution: Mayo Clinic

Language: English

Topic: Genomics and Rare Diseases

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

Funders: Mayo Clinic, Center for Individualized Medicine, Mayo Clinic

OpenAlex ID: W1987664355

FWCI: 1.593

Cites: 15

Cited by: 23

Related to: 10