scholarly journals 13q interstitial deletion in a moroccan child with hereditary retinoblastoma and intellectual disability: A case report

2020 ◽  
Vol 60 ◽  
pp. 334-337
Author(s):  
F.Z. Outtaleb ◽  
L. Kora ◽  
G. Jabrane ◽  
N. Serbati ◽  
L. El Maaloum ◽  
...  
2016 ◽  
Vol 173 (3) ◽  
pp. 638-646 ◽  
Author(s):  
Arianna Tucci ◽  
Lidia Pezzani ◽  
Giulietta Scuvera ◽  
Luisa Ronzoni ◽  
Elisa Scola ◽  
...  

Author(s):  
J Fonseca ◽  
C Melo ◽  
C Ferreira ◽  
M Sampaio ◽  
R Sousa ◽  
...  

AbstractEarly infantile epileptic encephalopathy-64 (EIEE 64), also called RHOBTB2-related developmental and epileptic encephalopathy (DEE), is caused by heterozygous pathogenic variants (EIEE 64; MIM#618004) in the Rho-related BTB domain-containing protein 2 (RHOBTB2) gene. To date, only 13 cases with RHOBTB2-related DEE have been reported. We add to the literature the 14th case of EIEE 64, identified by whole exome sequencing, caused by a heterozygous pathogenic variant in RHOBTB2 (c.1531C > T), p.Arg511Trp. This additional case supports the main features of RHOBTB2-related DEE: infantile-onset seizures, severe intellectual disability, impaired motor functions, postnatal microcephaly, recurrent status epilepticus, and hemiparesis after seizures.


2016 ◽  
Vol 15 (2) ◽  
Author(s):  
L.L. Li ◽  
H.G. Zhang ◽  
X.G. Shao ◽  
J.C. Gao ◽  
H.Y. Zhang ◽  
...  

2019 ◽  
Vol 14 (2) ◽  
pp. 42-48
Author(s):  
N. G. Lyukshina

Pitt–Hoppkins syndrome is rare genetic disorder caused by a molecular variant of TCF4 which is involved in embryologic neuronal differentiation. The syndrome is characterized by specific facial dysmorphism, phychomotor delay, autistic behavior and intellectual disability. Other associated features include ealy-onset myopia, seizures, constipation and hyperventilation-apneic spells. We introduced a clinical case of the patient with molecularly confirmed TCF4 variant and previously undescribed combination with syndrome of the electrical status epilepticus during sleep.


2019 ◽  
Vol 10 ◽  
Author(s):  
Fengchang Qiao ◽  
Binbin Shao ◽  
Chen Wang ◽  
Yan Wang ◽  
Ran Zhou ◽  
...  

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