P524: Novel variants in EFL1 lead to a potential diagnosis of Shwachman-Diamond syndrome 2

• John O'Shea,
• Jian Zhao,
• Pinar Bayrak-Toydemir,
• David Viskochil,
• Ashley Andrews,
• Lorenzo Botto,
• Rong Mao

Affiliations

John O'Shea

Department of Pathology, University of Utah and ARUP Laboratories, Salt Lake City, UT

Jian Zhao

Department of Pathology, University of Utah and ARUP Laboratories, Salt Lake City, UT

Pinar Bayrak-Toydemir

Department of Pathology, University of Utah and ARUP Laboratories, Salt Lake City, UT

David Viskochil

Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UT

Ashley Andrews

Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UT

Lorenzo Botto

Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UT

Rong Mao

Department of Pathology, University of Utah and ARUP Laboratories, Salt Lake City, UT