Dual diagnosis of

GJA8 UQCRFS1 alopecia cataracts mitochondrial complex III phenotypic spectrum rare disease

Journal

Rare (Amsterdam, Netherlands)
ISSN: 2950-0087
Titre abrégé: Rare
Pays: Netherlands
ID NLM: 9918769583006676

Informations de publication

Date de publication:
2024
Historique:
medline: 18 10 2024
pubmed: 18 10 2024
entrez: 18 10 2024
Statut: ppublish

Résumé

Biallelic pathogenic variants in

Identifiants

DOI: 10.1016/j.rare.2024.100040 PMID: 39421685 PMC: PMC11484756
pubmed: 39421685
doi: 10.1016/j.rare.2024.100040
pmc: PMC11484756
pii:
doi:

Types de publication

Journal Article

Langues

eng

Auteurs

Elizabeth E Blue (EE)

Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA.
Institute for Public Health Genetics, University of Washington, Seattle, WA 98195, USA.
Brotman Baty Institute, Seattle, WA 98195, USA.

Samuel J Huang (SJ)

Department of Medical Genetics, Marshfield Clinic, Marshfield, WI 54449, USA.

Alyna Khan (A)

Institute for Public Health Genetics, University of Washington, Seattle, WA 98195, USA.

Katie Golden-Grant (K)

Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA.

Brenna Boyd (B)

Department of Pediatrics, Columbia University Irving Medical Center, New York, NY 10032, USA.

Elisabeth A Rosenthal (EA)

Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA.

Madelyn A Gillentine (MA)

Department of Laboratories, Seattle Children's Hospital, Seattle, WA 98105, USA.

Leah R Fleming (LR)

Department of Genetics, Saint Luke's Genetics and Metabolic Clinic, Boise, ID 83712, USA.

David R Adams (DR)

NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD 20892, USA.

Lynne Wolfe (L)

NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD 20892, USA.

Aimee Allworth (A)

Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA.

Michael J Bamshad (MJ)

Brotman Baty Institute, Seattle, WA 98195, USA.
Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.

Nikeisha J Caruana (NJ)

Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Parkville, VIC, Australia.

Sirisak Chanprasert (S)

Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA.

Jingheng Chen (J)

Institute for Public Health Genetics, University of Washington, Seattle, WA 98195, USA.

Nitsuh Dargie (N)

Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA.

Daniel Doherty (D)

Brotman Baty Institute, Seattle, WA 98195, USA.
Division of Developmental Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.

Marisa W Friederich (MW)

Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado Anschutz Medical Center, Aurora, CO 80045, USA.
Department of Pathology and Laboratory Medicine, Children's Hospital Colorado, Aurora, CO 80045, USA.

Fuki M Hisama (FM)

Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA.

Martha Horike-Pyne (M)

Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA.

Jessica C Lee (JC)

Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado Anschutz Medical Center, Aurora, CO 80045, USA.

Tonia E Donovan (TE)

Department of Pathology and Laboratory Medicine, Children's Hospital Colorado, Aurora, CO 80045, USA.

Daniella H Hock (DH)

Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Parkville, VIC, Australia.
Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, VIC, Australia.
Victorian Clinical Genetics Services, Royal Children's Hospital, Parkville, VIC, Australia.

Kathleen A Leppig (KA)

Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA.

Danny E Miller (DE)

Brotman Baty Institute, Seattle, WA 98195, USA.
Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.
Department of Laboratory Medicine, University of Washington, Seattle, WA 98195, USA.

Ghayda Mirzaa (G)

Brotman Baty Institute, Seattle, WA 98195, USA.
Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.
Department of Laboratory Medicine, University of Washington, Seattle, WA 98195, USA.

Jane Ranchalis (J)

Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA.

Wendy H Raskind (WH)

Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA.

Cole R Michel (CR)

Department of Pharmaceutical Sciences, Skaggs School of Pharmacy and Pharmaceutical Sciences, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.

Richard Reisdorph (R)

Department of Pharmaceutical Sciences, Skaggs School of Pharmacy and Pharmaceutical Sciences, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.

Ulrike Schwarze (U)

Department of Laboratory Medicine, University of Washington, Seattle, WA 98195, USA.

Sam Sheppeard (S)

Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA.

Samuel Strohbehn (S)

Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA.

David A Stroud (DA)

Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Parkville, VIC, Australia.
Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, VIC, Australia.
Victorian Clinical Genetics Services, Royal Children's Hospital, Parkville, VIC, Australia.

Virginia P Sybert (VP)

Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA.

Mark H Wener (MH)

Department of Laboratory Medicine, University of Washington, Seattle, WA 98195, USA.
Department of Rheumatology, University of Washington, Seattle, WA 98195, USA.

Andrew B Stergachis (AB)

Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA.
Brotman Baty Institute, Seattle, WA 98195, USA.
Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA.

Christina T Lam (CT)

Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.
Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98105, USA.

Gail P Jarvik (GP)

Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA.
Brotman Baty Institute, Seattle, WA 98195, USA.
Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA.

Katrina M Dipple (KM)

Brotman Baty Institute, Seattle, WA 98195, USA.
Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.
Center for Clinical and Translational Research, Seattle Children's Research Institute, Seattle, WA 98105, USA.

Johan L K Van Hove (JLK)

Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado Anschutz Medical Center, Aurora, CO 80045, USA.
Department of Pathology and Laboratory Medicine, Children's Hospital Colorado, Aurora, CO 80045, USA.

Ian A Glass (IA)

Brotman Baty Institute, Seattle, WA 98195, USA.
Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.

Classifications MeSH