De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features.

Mullegama, Sureni V; Kiernan, Kaitlyn A; Torti, Erin; Pavlovsky, Ethan; Tilton, Nicholas; Sekula, Austin; Gao, Hua; Alaimo, Joseph T; Engleman, Kendra; Rush, Eric T; Blocker, Karli; Dipple, Katrina M; Fettig, Veronica M; Hare, Heather; Glass, Ian; Grange, Dorothy K; Griffin, Michael; Phornphutkul, Chanika; Massingham, Lauren; Mehta, Lakshmi; Miller, Danny E; Thies, Jenny; Merritt, J Lawrence; Muller, Eric; Osmond, Matthew; Sawyer, Sarah L; Slaugh, Rachel; Hickey, Rachel E; Wolf, Barry; Choudhary, Sanjeev; Simonovic, Miljan; Zhang, Yueqing; Palculict, Timothy Blake; Telegrafi, Aida; Carere, Deanna Alexis; Wentzensen, Ingrid M; Morrow, Michelle M; Monaghan, Kristin G; Juusola, Jane; Yang, Jun

Mullegama, Sureni V; Kiernan, Kaitlyn A; Torti, Erin; Pavlovsky, Ethan; Tilton, Nicholas; Sekula, Austin; Gao, Hua; Alaimo, Joseph T; Engleman, Kendra; Rush, Eric T; Blocker, Karli; Dipple, Katrina M; Fettig, Veronica M; Hare, Heather; Glass, Ian; Grange, Dorothy K; Griffin, Michael; Phornphutkul, Chanika; Massingham, Lauren; Mehta, Lakshmi; Miller, Danny E; Thies, Jenny; Merritt, J Lawrence; Muller, Eric; Osmond, Matthew; Sawyer, Sarah L; Slaugh, Rachel; Hickey, Rachel E; Wolf, Barry; Choudhary, Sanjeev; Simonovic, Miljan; Zhang, Yueqing; Palculict, Timothy Blake; Telegrafi, Aida; Carere, Deanna Alexis; Wentzensen, Ingrid M; Morrow, Michelle M; Monaghan, Kristin G; Juusola, Jane; Yang, Jun.

Am J Hum Genet ; 111(6): 1240, 2024 Jun 06.

Article em En | MEDLINE | ID: mdl-38749428

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Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2024 Tipo de documento: Article

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Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2024 Tipo de documento: Article