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| http://dx.doi.org/10.1297/cpe.2023-0002 | DOI Listing |
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A case report of a novel HIST1H1E mutation and a review of the bibliography to evaluate the genotype-phenotype correlations.
Mol Genet Genomic Med
December 2023
Department of Medical Genetics, First People's Hospital of Yunnan Province, Kunming, China.
Background: HIST1H1E is a member of the H1 gene family. Excess de novo likely gene-disruptive variants involving the C-terminal tail of HIST1H1E have been reported in neurodevelopmental disorders. Although clinical phenotypes in some patients have been described in single studies, few studies have reviewed the genotype and phenotype relationships using a relatively large cohort of patients with HIST1H1E variants.
View Article and Find Full Text PDFHIST1H1E syndrome with deficiency in multiple pituitary hormones.
Clin Pediatr Endocrinol
March 2023
Department of Pediatrics, Kansai Medical University, Osaka, Japan.
An investigation of the etiology and follow-up findings in 35 children with overgrowth syndromes, including biallelic SUZ12 variant.
Am J Med Genet A
June 2023
Department of Pediatric Genetics, Cerrahpasa Medical Faculty, Istanbul University-Cerrahpasa, Istanbul, Turkey.
Overgrowth-intellectual disability (OGID) syndromes are clinically and genetically heterogeneous group of disorders. The aim of this study was to examine the molecular etiology and long-term follow-up findings of Turkish OGID cohort. Thirty-five children with OGID were included in the study.
View Article and Find Full Text PDFExpanding the mutational spectrum of Rahman syndrome: A rare disorder with severe intellectual disability and particular facial features in two Chinese patients.
Mol Genet Genomic Med
March 2022
AmCare Genomics Laboratory, Guangzhou, China.
Background: The study aimed to investigate the clinical and genetic features of Rahman syndrome caused by HIST1H1E gene mutations.
Methods: We retrospectively analyzed the clinical information and genetic testing results of a Rahman syndrome family in an outpatient clinic in August 2020 and summarized the clinical characteristics of the HIST1H1E gene mutations in conjunction with peer-reviewed reports.
Results: A 4-year-old boy was diagnosed with severe developmental delay and with specific features (large head, full cheeks, high hairline, low-set ear, sparse eyebrows, and short neck) similar to his mother (mild intellectual disability, high hairline, reduced hair, ptosis, sagging skin, and hyperkeratosis) and premature aging.
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