scholarly journals CHD7 Gene

2020 ◽  
Author(s):  
Keyword(s):  
2019 ◽  
Vol 12 ◽  
pp. 117863101983901 ◽  
Author(s):  
Laura Pranckėnienė ◽  
Eglė Preikšaitienė ◽  
Lucie Gueneau ◽  
Alexandre Reymond ◽  
Vaidutis Kučinskas

CHARGE syndrome is an autosomal dominant developmental disorder associated with a constellation of traits involving almost every organ and sensory system, in particular congenital anomalies, including choanal atresia and malformations of the heart, inner ear, and retina. Variants in CHD7 have been shown to cause CHARGE syndrome. Here, we report the identification of a novel de novo p.Asp2119_Pro2120ins6 duplication variant in a conserved region of CHD7 in a severely affected boy presenting with 3 and 5 of the CHARGE cardinal major and minor signs, respectively, combined with congenital umbilical hernia, congenital hernia at the linea alba, mildly hypoplastic inferior vermis, slight dilatation of the lateral ventricles, prominent metopic ridge, and hypoglycemic episodes.


2010 ◽  
Vol 14 (6) ◽  
pp. 881-891 ◽  
Author(s):  
Cynthia F. Bartels ◽  
Cheryl Scacheri ◽  
Lashonda White ◽  
Peter C. Scacheri ◽  
Sherri Bale

2016 ◽  
Vol 25 (3) ◽  
pp. 98-100
Author(s):  
Andrea Surányi ◽  
Zoltán Maróti ◽  
Gyula Tálosi ◽  
Tibor Kalmár ◽  
László Kaiser ◽  
...  

2006 ◽  
Vol 140A (19) ◽  
pp. 2110-2114 ◽  
Author(s):  
Têmis M. Félix ◽  
Benjamin C. Hanshaw ◽  
Robert Mueller ◽  
Pierre Bitoun ◽  
Jeffrey C. Murray

Gene ◽  
2013 ◽  
Vol 517 (2) ◽  
pp. 164-168 ◽  
Author(s):  
Hyun-Ju Cho ◽  
Mee Hyun Song ◽  
Soo-Young Choi ◽  
Jeongho Kim ◽  
Jinwook Lee ◽  
...  

Spine ◽  
2013 ◽  
Vol 38 (22) ◽  
pp. E1432-E1436 ◽  
Author(s):  
Mera K. Tilley ◽  
Cristina M. Justice ◽  
Kandice Swindle ◽  
Beth Marosy ◽  
Alexander F. Wilson ◽  
...  

2015 ◽  
Vol 16 (1) ◽  
Author(s):  
Elisa Pisaneschi ◽  
Pietro Sirleto ◽  
Francesca Romana Lepri ◽  
Silvia Genovese ◽  
Maria Lisa Dentici ◽  
...  

2007 ◽  
Vol 80 (5) ◽  
pp. 957-965 ◽  
Author(s):  
Xiaochong Gao ◽  
Derek Gordon ◽  
Dongping Zhang ◽  
Richard Browne ◽  
Cynthia Helms ◽  
...  

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