The adaptive functioning profile of Pitt-Hopkins syndrome
Author:
Funder
Cerebra
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics,General Medicine
Reference42 articles.
1. Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction;Amiel;Am. J. Hum. Genet.,2007
2. Bayley Scales of Infant and Toddler Development;Bayley,2006
3. Severe mental retardation with breathing abnormalities (Pitt–Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4;Brockschmidt;Hum. Mol. Genet.,2007
4. Angelman syndrome: are the estimates too low?;Buckley;Am. J. Med. Genet.,1998
5. Angelman syndrome: evolution of the phenotype in adolescents and adults;Clayton-Smith;Dev. Med. Child Neurol.,2001
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1. Clinical and genetic characterization of 47 Chinese pediatric patients with Pitt–Hopkins syndrome: a retrospective study;Orphanet Journal of Rare Diseases;2024-02-08
2. Untangling adaptive functioning of PMM2-CDG across age and its impact on parental stress: a cross-sectional study;Scientific Reports;2023-12-20
3. Untangling adaptive functioning of PMM2-CDG across age and its impact on parental stress: a cross-sectional study;2023-08-03
4. Epilepsy and electroencephalography in Pitt-Hopkins syndrome;Journal of Translational Genetics and Genomics;2022
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