Two unrelated girls with intellectual disability associated with a truncating mutation in the PPM1D penultimate exon
Author:
Funder
the Ministry of Health, Labour and Welfare
Publisher
Elsevier BV
Subject
Neurology (clinical),Developmental Neuroscience,General Medicine,Pediatrics, Perinatology and Child Health
Reference10 articles.
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2. DVL3 alleles resulting in a -1 frameshift of the last exon mediate autosomal-dominant robinow syndrome;White;Am J Hum Genet,2016
3. Heterozygous truncating variants in POMP escape nonsense-mediated decay and cause a unique immune dysregulatory syndrome;Poli;Am J Hum Genet.,2018
4. De novo truncating mutations in the last and penultimate exons of PPM1D cause an intellectual disability syndrome;Jansen;Am J Hum Genet,2017
5. Wip1, a novel human protein phosphatase that is induced in response to ionizing radiation in a p53-dependent manner;Fiscella;Proc Natl Acad Sci USA,1997
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2. Jansen‐de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families;American Journal of Medical Genetics Part A;2023-05-14
3. Short stature leads to a diagnosis of Jansen–de Vries syndrome in two unrelated Taiwanese girls: A case report and literature review;Journal of the Formosan Medical Association;2022-04
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