Genetics in Medicine Open (Jan 2023)
P584: Dual diagnosis of maple syrup urine disease 1B and 6q14.1 deletion in an individual with neurodevelopmental and metabolic phenotypes
- Xin (David) Wang,
- Kelly Kirsten,
- Meredith Wright,
- Olivia Kim-McManus,
- Sophia Ceulemans,
- Annette Feigenbaum,
- Hannah Tsai,
- Jerica Lenberg,
- Paula Gray,
- Deepali Shinde,
- Lucia Guidugli,
- Mari Tokita
Affiliations
- Xin (David) Wang
- Rady Children’s Institute for Genomic Medicine, San Diego, CA
- Kelly Kirsten
- Rady Children’s Institute for Genomic Medicine, San Diego, CA
- Meredith Wright
- Rady Children’s Institute for Genomic Medicine, San Diego, CA
- Olivia Kim-McManus
- Rady Children’s Hospital San Diego, San Diego, CA and University of California San Diego. La Jolla, CA
- Sophia Ceulemans
- Rady Children’s Hospital San Diego, San Diego, CA
- Annette Feigenbaum
- Rady Children’s Institute for Genomic Medicine and Rady Children’s Hospital San Diego, San Diego, CA
- Hannah Tsai
- Rady Children’s Hospital San Diego, San Diego, CA
- Jerica Lenberg
- Rady Children’s Institute for Genomic Medicine, San Diego, CA
- Paula Gray
- Rady Children’s Institute for Genomic Medicine, San Diego, CA
- Deepali Shinde
- Rady Children’s Institute for Genomic Medicine, San Diego, CA
- Lucia Guidugli
- Rady Children’s Institute for Genomic Medicine, San Diego, CA
- Mari Tokita
- Rady Children’s Institute for Genomic Medicine, San Diego, CA
- Journal volume & issue
-
Vol. 1,
no. 1
p. 100631