Molecular characteristics of Chinese patients with Rett syndrome
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics,General Medicine
Reference30 articles.
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2. A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: report of 35 cases;Hagberg;Ann. Neurol.,1983
3. An update on clinically applicable diagnostic criteria in Rett syndrome;Hagberg;Eur. J. Paediatr. Neurol.,2002
4. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2;Amir;Nat. Genet.,1999
5. MECP2 mutations and clinical correlations in Greek children with Rett syndrome and associated neurodevelopmental disorders;Psoni;Brain Dev.,2012
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2. MECP2 germline mosaicism plays an important part in the inheritance of Rett syndrome: a study of MECP2 germline mosaicism in males;BMC Medicine;2023-04-20
3. Identification of a de novo mutation of the FOXG1 gene and comprehensive analysis for molecular factors in Chinese FOXG1-related encephalopathies;Frontiers in Molecular Neuroscience;2022-12-07
4. Identification of a de novo mutation of FOXG1gene and comprehensive analysis for molecular factors in Chinese FOXG1-related Rett syndrome;2022-08-26
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