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Composite Sleep Problems Observed Across Smith-Magenis Syndrome, MBD5-Associated Neurodevelopmental Disorder, Pitt-Hopkins Syndrome, and ASD.
J Autism Dev Disord. 2021 Jun;51(6):1852-1865. doi: 10.1007/s10803-020-04666-2.
J Autism Dev Disord. 2021.
PMID: 32845423
Caregivers of preschool and elementary school age children with Smith-Magenis syndrome (SMS), MBD5-associated neurodevelopmental disorder (MAND), and Pitt-Hopkins syndrome (PTHS) were surveyed to assess sleep disturbance and to identify disorder-specif …
Caregivers of preschool and elementary school age children with Smith-Magenis syndrome (SMS), MBD5-associated neurodevelopm …
Diagnostic exome sequencing identifies a heterozygous MBD5 frameshift mutation in a family with intellectual disability and epilepsy.
Han JY, Lee IG, Jang W, Kim M, Kim Y, Jang JH, Park J.
Han JY, et al.
Eur J Med Genet. 2017 Oct;60(10):559-564. doi: 10.1016/j.ejmg.2017.08.003. Epub 2017 Aug 12.
Eur J Med Genet. 2017.
PMID: 28807762
Methyl-CpG-binding domain 5 (MBD5)-associated neurodevelopmental disorder caused by 2q23.1 or MBD5-specific mutation has been recently identified as a genetic disorder associated with autism spectrum disorders. ...The proband's father with normal intel …
Methyl-CpG-binding domain 5 (MBD5)-associated neurodevelopmental disorder caused by 2q23.1 or MBD5-specific muta …
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