Autistic and psychiatric findings associated with the 3q29 microdeletion syndrome: Case report and review

2010 ◽  
Vol 152A (10) ◽  
pp. 2459-2467 ◽  
Author(s):  
Fabiola Quintero-Rivera ◽  
Pantea Sharifi-Hannauer ◽  
Julian A. Martinez-Agosto
Keyword(s):  
Case Report ◽  
Microdeletion Syndrome ◽  
3Q29 Microdeletion

scholarly journals Familial inheritance of the 3q29 microdeletion syndrome: case report and review

2019 ◽  
Vol 12 (1) ◽  
Author(s):  
Wahab A. Khan ◽  
Ninette Cohen ◽  
Stuart A. Scott ◽  
Elaine M. Pereira
Keyword(s):  
Case Report ◽  
Microdeletion Syndrome ◽  
Familial Inheritance ◽  
3Q29 Microdeletion

scholarly journals Novel heterozygous pathogenic variants in CHUK in a patient with AEC-like phenotype, immune deficiencies and 1q21.1 microdeletion syndrome: a case report

2018 ◽  
Vol 19 (1) ◽  
Author(s):  
Maxime Cadieux-Dion ◽  
Nicole P. Safina ◽  
Kendra Engleman ◽  
Carol Saunders ◽  
Elena Repnikova ◽  
...  
Keyword(s):  
Case Report ◽  
Microdeletion Syndrome ◽  
Pathogenic Variants ◽  
Immune Deficiencies

scholarly journals 3q29 Microdeletion Syndrome: Clinical and Molecular Characterization of a New Syndrome

2005 ◽  
Vol 77 (1) ◽  
pp. 154-160 ◽  
Author(s):  
Lionel Willatt ◽  
James Cox ◽  
John Barber ◽  
Elisabet Dachs Cabanas ◽  
Amanda Collins ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
Microdeletion Syndrome ◽  
3Q29 Microdeletion

scholarly journals Anesthetic Approach for a Patient with 1q21.1 Microdeletion Syndrome: A Case Report

2020 ◽  
Vol 10 (3) ◽  
pp. 306-308
Author(s):  
Gül Cansever ◽  
Cansu Uzuntürk ◽  
Nur Canbolat
Keyword(s):  
Case Report ◽  
Microdeletion Syndrome

Mutation screening of the 3q29 microdeletion syndrome candidate genes DLG1 and PAK2 in schizophrenia

2011 ◽  
Vol 156 (7) ◽  
pp. 844-849 ◽  
Author(s):  
L.S. Carroll ◽  
H.J. Williams ◽  
J. Walters ◽  
G. Kirov ◽  
M.C. O'Donovan ◽  
...  
Keyword(s):  
Candidate Genes ◽  
Mutation Screening ◽  
Microdeletion Syndrome ◽  
3Q29 Microdeletion

8q21.11 Microdeletion syndrome detected by array CGH : A case report

2017 ◽  
Vol 21 ◽  
pp. e51
Author(s):  
Hae-yeon Park ◽  
So Youn Jun ◽  
Ah-ra Cho ◽  
Joo Hyun Park
Keyword(s):  
Case Report ◽  
Array Cgh ◽  
Microdeletion Syndrome
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