Phenotypic variability in two infants sharing the same MECP2 mutation: evidence of chromosomal rearrangements and high sister-chromatid exchange levels in Rett syndrome-Reference-Cited by-同舟云学术

Phenotypic variability in two infants sharing the same MECP2 mutation: evidence of chromosomal rearrangements and high sister-chromatid exchange levels in Rett syndrome

Published:2016-07-05 Issue:1 Volume:117 Page:251-258
ISSN:0300-9009
Container-title:Acta Neurologica Belgica
language:en
Short-container-title:Acta Neurol Belg

Author:

Kharrat Marwa,Hsairi Ines,Doukali Hajer,Fendri-Kriaa Nourhene,Kammoun Hassen,Ammar-keskes Leila,Triki Chahnez,Fakhfakh Faiza

Publisher

Springer Science and Business Media LLC

Subject

Neurology (clinical),General Medicine

Link

http://link.springer.com/content/pdf/10.1007/s13760-016-0667-5.pdf

Reference26 articles.

1. Fehr S, Bebbington A, Nassar N, Downs J, Ronen GM, De Klerk N et al (2011) Trends in the diagnosis of Rett syndrome in Australia. Pediatr Res 70:313–319

2. Rett A (1966) Uber ein eigenartiges hirnatrophisches Syndrom bei Hyperammonamie im Kindesalter. Wien Med Wochenschr 116:723–729

3. Hagberg B, Goutieres F, Hanefeld F, Rett A, J Wilson (1985) Rett syndrome: criteria for inclusion and exclusion. Brain Dev 7(3):372–373

4. Williamson S, Christodoulou J (2006) Rett syndrome: new clinical and molecular insights. Eur J Hum Genet 14:896–903

5. Vorsanova SG, Yurov YB, Ulas VY, Demidova IA, Sharonin VO, Kolotii AD (2001) Cytogenetic and molecular-cytogenetic studies of RTT syndrome (RTT): a retrospective analysis of a Russian cohort of RTT patients (the investigation of 57 girls and three boys). Brain Dev Suppl 1:S196–S201

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