The cohort highlights novel findings, including the co-occurrence of AD LZTR1-NS with 22q11.2 deletion and two patients with AR NS with features suggestive of schwannomatosis, which expand the clinical spectrum of LZTR1-NS and have important implications for diagnosis, surveillance, and genetic counseling.
H. Jaouadi, Şakir Hicazi, Carolyn R. Raski et al.· American Journal of Medical...· 0 citations
“hemiconvulsion-hemiplegia-epilepsy syndrome” is identified as a distinct feature and potential prognostic indicator for middle domain variants in DNM1L variants, which are predominantly missense, with the middle domain as a hotspot.
Han Xu, Chao-Long Xu, Ying Zou et al.· Frontiers in Neurology· 0 citations
By incorporating growth data from childhood, this study construct sex-specific growth curves and provide a precise reference for the evaluation of growth abnormalities in pediatric NF1, and expands the current understanding of phenotypic heterogeneity and genotype-phenotype correlations in pediatric NF1.
Zhiying Li, Xin Li, Tian-Lian Wen et al.· World Journal of Pediatrics· 0 citations
PTEN Hamartoma Tumor Syndrome (PHTS) is a rare condition characterized by a complex phenotype including gastrointestinal hamartomas and increased lifetime malignancy risk. To characterize the clinical phenotype, genetic landscape, and spectrum of malignancies within a large cohort of adult PHTS carriers. A retrospectiv...
E. Ritter, A. A. Shtaya, R. Kariv et al.· Familial Cancer· 0 citations
Atypical presentations in patients with Fabry disease exhibit a broad clinical spectrum and diverse genotypes and should be closely monitored to enable early diagnosis and treatment, thereby improving prognosis.
Z.-J. He, Y.-Y. Zhang, Lin Chen et al.· Zhonghua nei ke za zhi· 0 citations