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Genetics in Medicine Open
(Jan 2023)
P284: Compound heterozygosity for loss-of-function variants in GDF1 provides a molecular diagnosis in a patient with heterotaxy syndrome
Vittoria Rossi,
Xi Luo,
Kristin Cardiel Nunez,
Ruiyang Yi,
Elizabeth Mizerik,
Lauren Westerfield,
Seema Lalani,
Mir Reza Bekheirnia
Affiliations
Vittoria Rossi
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX
Xi Luo
Department of Molecular and Human Genetics, Baylor College of Medicine; Baylor Genetics, Houston, TX
Kristin Cardiel Nunez
Mayo Clinic Alix School of Medicine, Center for Clinical and Translational Sciences
Ruiyang Yi
Department of Molecular and Human Genetics, Baylor College of Medicine; Texas Children's Hospital
Elizabeth Mizerik
Department of Molecular and Human Genetics, Baylor College of Medicine; Texas Children's Hospital
Lauren Westerfield
Department of Molecular and Human Genetics, Baylor College of Medicine; Texas Children's Hospital
Seema Lalani
Department of Molecular and Human Genetics, Baylor College of Medicine; Texas Children's Hospital
Mir Reza Bekheirnia
Department of Molecular and Human Genetics, Baylor College of Medicine; Texas Children's Hospital
Journal volume & issue
Vol. 1, no. 1
p. 100312
Abstract
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No abstracts available.
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