An Amino Acid Deletion in SZT2 in a Family with Non-Syndromic Intellectual Disability

Open Access

Peer-reviewed

Research Article

Michelle Falcone,

Affiliation Dr. John T. Macdonald Department of Human Genetics and John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, Florida, United States of America
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Kemal O. Yariz,

Affiliation Dr. John T. Macdonald Department of Human Genetics and John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, Florida, United States of America
⨯
David B. Ross,

Affiliation Comprehensive Neurobehavioral Institute, Plantation, Florida, United States of America
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Joseph Foster II,

Affiliation Dr. John T. Macdonald Department of Human Genetics and John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, Florida, United States of America
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Ibis Menendez,

Affiliation Dr. John T. Macdonald Department of Human Genetics and John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, Florida, United States of America
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Mustafa Tekin

* E-mail: mtekin@med.miami.edu

Affiliation Dr. John T. Macdonald Department of Human Genetics and John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, Florida, United States of America
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Nonsense mutation
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Homozygosity
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Autosomal recessive traits
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Mutation databases
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Speech therapy
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Heterozygosity
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Phenylalanine
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Variant genotypes
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