Associated Papers
Coupling deep phenotypic quantification with next-generation phenotyping for 192 individuals with germline histonopathies.
Lubin EE et al.
Hgg Advances, 2025
40241305 (PubMed )
Supplement: mmc4.xlsx › Sheet10
A Rare Presentation of HIST1H1E Syndrome with Short Stature and Multiple Pituitary Hormone Deficiencies.
Altun İ et al.
Journal of Clinical Research in Pediatric Endocrinology, 2025
A case report of a novel HIST1H1E mutation and a review of the bibliography to evaluate the genotype-phenotype correlations.
Zhao W et al.
Molecular Genetics & Genomic Medicine, 2023
HIST1H1E syndrome with deficiency in multiple pituitary hormones.
Tanabe Y et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2023
Approach to Cohort-Wide Re-Analysis of Exome Data in 1000 Individuals with Neurodevelopmental Disorders.
Halfmeyer I et al.
Genes, 2022
36672771 (PubMed )
Supplement: genes-14-00030-s001.zip › Table_S1.xlsx › SNVs
Expanding the mutational spectrum of Rahman syndrome: A rare disorder with severe intellectual disability and particular facial features in two Chinese patients.
Zhao J et al.
Molecular Genetics & Genomic Medicine, 2022
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