Smith-Kingsmore syndrome: A third family with theMTORmutation c.5395G>A p.(Glu1799Lys) and evidence for paternal gonadal mosaicism

2016 ◽  
Vol 173 (1) ◽  
pp. 264-267 ◽  
Author(s):  
Shahida Moosa ◽  
Helena Böhrer-Rabel ◽  
Janine Altmüller ◽  
Filippo Beleggia ◽  
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Gonadal Mosaicism

Rhabdoid tumor predisposition syndrome caused by SMARCB1 constitutional deletion: prenatal detection of new case of recurrence in siblings due to gonadal mosaicism

2015 ◽  
Vol 15 (1) ◽  
pp. 123-126 ◽  
Author(s):  
Laura Gigante ◽  
Irene Paganini ◽  
Marina Frontali ◽  
Serena Ciabattoni ◽  
Federica Carla Sangiuolo ◽  
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Gonadal Mosaicism ◽  
Prenatal Detection

Gonadal mosaicism in severe Pallister-Hall syndrome

2003 ◽  
Vol 124A (3) ◽  
pp. 296-302 ◽  
Author(s):  
David Ng ◽  
Jennifer J. Johnston ◽  
Joyce T. Turner ◽  
Eilis A. Boudreau ◽  
Edythe A. Wiggs ◽  
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Gonadal Mosaicism

scholarly journals Hereditary angioedema in 2 sisters due to paternal gonadal mosaicism

2018 ◽  
Vol 6 (1) ◽  
pp. 277-279.e1 ◽  
Author(s):  
Didier G. Ebo ◽  
Athina L. Van Gasse ◽  
Vito Sabato ◽  
Esther Bartholomeus ◽  
Edwin Reyniers ◽  
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Gonadal Mosaicism

Male pseudohermaphroditism and gonadal mosaicism in a 47,XY,+22 fetus

2006 ◽  
Vol 140A (16) ◽  
pp. 1768-1772 ◽  
Author(s):  
Mélanie Beaulieu Bergeron ◽  
Danh Tran-Thanh ◽  
Jean-Christophe Fournet ◽  
Emmanuelle Lemyre ◽  
Nicole Lemieux ◽  
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Gonadal Mosaicism

scholarly journals Germline activating MTOR mutation arising through gonadal mosaicism in two brothers with megalencephaly and neurodevelopmental abnormalities

2015 ◽  
Vol 16 (1) ◽  
Author(s):  
Cameron Mroske ◽  
Kristen Rasmussen ◽  
Deepali N. Shinde ◽  
Robert Huether ◽  
Zoe Powis ◽  
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Gonadal Mosaicism ◽  
Neurodevelopmental Abnormalities

Abstract 4159: Gonadal mosaicism in a family withTP53-associated Li-Fraumeni syndrome

2019 ◽  
Author(s):  
Payal P. Khincha ◽  
Kristine Jones ◽  
Kedest Teshome ◽  
Belynda Hicks ◽  
Phuong L. Mai ◽  
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Li Fraumeni Syndrome ◽  
Gonadal Mosaicism ◽  
Li Fraumeni

Genetic counseling in Angelman syndrome: Gonadal mosaicism

1998 ◽  
Vol 78 (5) ◽  
pp. 482-482 ◽  
Author(s):  
Heather J. Stalker ◽  
Charles A. Williams ◽  
Joseph Wagstaff
Keyword(s):  
Genetic Counseling ◽  
Angelman Syndrome ◽  
Gonadal Mosaicism
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