scholarly journals A de novo triplication on 2q22.3 including the entire ZEB2 gene associated with global developmental delay, multiple congenital anomalies and behavioral abnormalities

2015 ◽  
Vol 8 (1) ◽  
Author(s):  
Haiming Yuan ◽  
Lina Zhang ◽  
Mengfan Chen ◽  
Junping Zhu ◽  
Zhe Meng ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Congenital Anomalies ◽  
De Novo ◽  
Global Developmental Delay ◽  
Multiple Congenital Anomalies ◽  
Behavioral Abnormalities

scholarly journals Homozygous noncanonical splice variant in LSM1 in two siblings with multiple congenital anomalies and global developmental delay

2019 ◽  
Vol 5 (3) ◽  
pp. a004101 ◽  
Author(s):  
Volkan Okur ◽  
Charles A. LeDuc ◽  
Edwin Guzman ◽  
Zaheer M. Valivullah ◽  
Kwame Anyane-Yeboa ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Congenital Anomalies ◽  
Splice Variant ◽  
Global Developmental Delay ◽  
Multiple Congenital Anomalies

scholarly journals Multiple congenital anomalies and developmental delay in a boy associated with a de novo 16p13.3 deletion

2011 ◽  
Vol 155 (3) ◽  
pp. 612-617 ◽  
Author(s):  
Marc Nelson ◽  
Shane Quinonez ◽  
Todd Ackley ◽  
Ram K. Iyer ◽  
Jeffrey W. Innis
Keyword(s):  
Developmental Delay ◽  
Congenital Anomalies ◽  
De Novo ◽  
Multiple Congenital Anomalies

A novel de novo TMEM63A variant in a patient with severe hypomyelination and global developmental delay

2021 ◽  
Author(s):  
Shinobu Fukumura ◽  
Takuya Hiraide ◽  
Akiyo Yamamoto ◽  
Kousuke Tsuchida ◽  
Kazushi Aoto ◽  
...  
Keyword(s):  
Developmental Delay ◽  
De Novo ◽  
Global Developmental Delay
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