Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation (vol 21, pg 764, 2019)

Koczkowska, Magdalena; Callens, Tom; Gomes, Alicia; Sharp, Angela; Chen, Yunjia; Hicks, Alesha D; Aylsworth, Arthur S; Azizi, Amedeo A; Basel, Donald G; Bellus, Gary; Bird, Lynne M; Blazo, Maria A; Burke, Leah W; Cannon, Ashley; Collins, Felicity; DeFilippo, Colette; Denayer, Ellen; Digilio, Maria C; Dills, Shelley K; Dosa, Laura; Greenwood, Robert S; Griffis, Cristin; Gupta, Punita; Hachen, Rachel K; Hernandez-Chico, Concepcion; Janssens, Sandra; Jones, Kristi J; Jordan, Justin T; Kannu, Peter; Korf, Bruce R; Lewis, Andrea M; Listernick, Robert H; Lonardo, Fortunato; Mahoney, Maurice J; Ojeda, Mayra Martinez; McDonald, Marie T; McDougall, Carey; Mendelsohn, Nancy; Miller, David T; Mori, Mari; Oostenbrink, Rianne; Perreault, Sebastien; Pierpont, Mary Ella; Piscopo, Carmelo; Pond, Dinel A; Randolph, Linda M; Rauen, Katherine A; Rednam, Surya; Rutledge, S Lane; Saletti, Veronica; Schaefer, G Bradley; Schorry, Elizabeth K; Scott, Daryl A; Shugar, Andrea; Siqveland, Elizabeth; Starr, Lois J; Syed, Ashraf; Trapane, Pamela L; Ullrich, Nicole J; Wakefield, Emily G; Walsh, Laurence E; Wangler, Michael F; Zackai, Elaine; Claes, Kathleen BM; Wimmer, Katharina; van Minkelen, Rick; De Luca, Alessandro; Martin, Yolanda; Legius, Eric; Messiaen, Ludwine M

doi:10.1038/s41436-018-0326-8

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation (vol 21, pg 764, 2019)

Author:

Koczkowska, Magdalena

Callens, Tom ; Gomes, Alicia ; Sharp, Angela ; Chen, Yunjia ; Hicks, Alesha D ; Aylsworth, Arthur S ; Azizi, Amedeo A ; Basel, Donald G ; Bellus, Gary ; Bird, Lynne M ; Blazo, Maria A ; Burke, Leah W ; Cannon, Ashley ; Collins, Felicity ; DeFilippo, Colette ; Denayer, Ellen ; Digilio, Maria C ; Dills, Shelley K ; Dosa, Laura ; Greenwood, Robert S ; Griffis, Cristin ; Gupta, Punita ; Hachen, Rachel K ; Hernandez-Chico, Concepcion ; Janssens, Sandra ; Jones, Kristi J ; Jordan, Justin T ; Kannu, Peter ; Korf, Bruce R ; Lewis, Andrea M ; Listernick, Robert H ; Lonardo, Fortunato ; Mahoney, Maurice J ; Ojeda, Mayra Martinez ; McDonald, Marie T ; McDougall, Carey ; Mendelsohn, Nancy ; Miller, David T ; Mori, Mari ; Oostenbrink, Rianne ; Perreault, Sebastien ; Pierpont, Mary Ella ; Piscopo, Carmelo ; Pond, Dinel A ; Randolph, Linda M ; Rauen, Katherine A ; Rednam, Surya ; Rutledge, S Lane ; Saletti, Veronica ; Schaefer, G Bradley ; Schorry, Elizabeth K ; Scott, Daryl A ; Shugar, Andrea ; Siqveland, Elizabeth ; Starr, Lois J ; Syed, Ashraf ; Trapane, Pamela L ; Ullrich, Nicole J ; Wakefield, Emily G ; Walsh, Laurence E ; Wangler, Michael F ; Zackai, Elaine ; Claes, Kathleen BM ; Wimmer, Katharina ; van Minkelen, Rick ; De Luca, Alessandro ; Martin, Yolanda ; Legius, Eric ; Messiaen, Ludwine M

Keywords:

Science & Technology, Life Sciences & Biomedicine, Genetics & Heredity, 0604 Genetics, 1103 Clinical Sciences, 3105 Genetics

Abstract:

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