Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11.

Ravenscroft, Thomas A; Phillips, Jennifer B; Fieg, Elizabeth; Bajikar, Sameer S; Peirce, Judy; Wegner, Jeremy; Luna, Alia A; Fox, Eric J; Yan, Yi-Lin; Rosenfeld, Jill A; Zirin, Jonathan; Kanca, Oguz; Benke, Paul J; Cameron, Eric S; Strehlow, Vincent; Platzer, Konrad; Jamra, Rami Abou; Klöckner, Chiara; Osmond, Matthew; Licata, Thomas; Rojas, Samantha; Dyment, David; Chong, Josephine S C; Lincoln, Sharyn; Stoler, Joan M; Postlethwait, John H; Wangler, Michael F; Yamamoto, Shinya; Krier, Joel; Westerfield, Monte; Bellen, Hugo J

Ravenscroft, Thomas A; Phillips, Jennifer B; Fieg, Elizabeth; Bajikar, Sameer S; Peirce, Judy; Wegner, Jeremy; Luna, Alia A; Fox, Eric J; Yan, Yi-Lin; Rosenfeld, Jill A; Zirin, Jonathan; Kanca, Oguz; Benke, Paul J; Cameron, Eric S; Strehlow, Vincent; Platzer, Konrad; Jamra, Rami Abou; Klöckner, Chiara; Osmond, Matthew; Licata, Thomas; Rojas, Samantha; Dyment, David; Chong, Josephine S C; Lincoln, Sharyn; Stoler, Joan M; Postlethwait, John H; Wangler, Michael F; Yamamoto, Shinya; Krier, Joel; Westerfield, Monte; Bellen, Hugo J.

Affiliation

Ravenscroft TA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Phillips JB; Jan and Dan Duncan Neurological Research Institute, Texas Children Hospital, Houston, TX, USA.
Fieg E; Institute of Neuroscience, University of Oregon, Eugene, OR, USA.
Bajikar SS; Brigham and Women's Hospital, Boston, MA, USA.
Peirce J; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Wegner J; Jan and Dan Duncan Neurological Research Institute, Texas Children Hospital, Houston, TX, USA.
Luna AA; Institute of Neuroscience, University of Oregon, Eugene, OR, USA.
Fox EJ; Institute of Neuroscience, University of Oregon, Eugene, OR, USA.
Yan YL; Institute of Neuroscience, University of Oregon, Eugene, OR, USA.
Rosenfeld JA; Institute of Neuroscience, University of Oregon, Eugene, OR, USA.
Zirin J; Institute of Neuroscience, University of Oregon, Eugene, OR, USA.
Kanca O; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Benke PJ; Department of Genetics, Harvard Medical School, Boston, MA, USA.
Cameron ES; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Strehlow V; Jan and Dan Duncan Neurological Research Institute, Texas Children Hospital, Houston, TX, USA.
Jamra RA; Joe DiMaggio Children's Hospital, Hollywood, FL, USA.
Klöckner C; Joe DiMaggio Children's Hospital, Hollywood, FL, USA.
Osmond M; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
Licata T; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
Rojas S; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
Dyment D; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
Chong JSC; Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.
Lincoln S; Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.
Stoler JM; Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.
Postlethwait JH; Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.
Wangler MF; The Chinese University of Hong Kong-Baylor College of Medicine Joint Center of Medical Genetics, Hong Kong Special Administrative Region, The People's Republic of China.
Yamamoto S; Boston Children's Hospital, Boston, MA, USA.
Krier J; Boston Children's Hospital, Boston, MA, USA.
Westerfield M; Institute of Neuroscience, University of Oregon, Eugene, OR, USA.
Bellen HJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

Genet Med ; 23(10): 1889-1900, 2021 10.

Article de En | MEDLINE | ID: mdl-34113007

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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Malformations crâniofaciales / Protéines morphogénétiques osseuses / Facteurs de croissance et de différenciation Type d'étude: Prognostic_studies / Risk_factors_studies Limites: Animals / Humans Langue: En Journal: Genet Med Sujet du journal: GENETICA MEDICA Année: 2021 Type de document: Article Pays d'affiliation: États-Unis d'Amérique Pays de publication: États-Unis d'Amérique

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