Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlations
E Vanbelleghem, T Van Damme, A Beyens… - European Journal of …, 2024 - nature.com
Abstract Myhre syndrome (MS, MIM 139210) is a rare multisystemic disorder caused by
recurrent pathogenic missense variants in SMAD4. The clinical features have been mainly …
recurrent pathogenic missense variants in SMAD4. The clinical features have been mainly …
DNA methylation profiling in Kabuki syndrome: reclassification of germline KMT2D VUS and sensitivity in validating postzygotic mosaicism
Autosomal dominant Kabuki syndrome (KS) is a rare multiple congenital anomalies/
neurodevelopmental disorder caused by heterozygous inactivating variants or structural …
neurodevelopmental disorder caused by heterozygous inactivating variants or structural …
Sex-specific difference in phenotype of Kabuki syndrome type 2 patients: a matched case-control study
Y Wang, Y Xu, Y Chen, Y Hu, Q Li, S Liu, J Wang… - BMC pediatrics, 2024 - Springer
Background Kabuki syndrome (KS) is a monogenic disorder leading to special facial
features, mental retardation, and multiple system malformations. Lysine demethylase …
features, mental retardation, and multiple system malformations. Lysine demethylase …
A Case of Kabuki Syndrome Caused by a Novel Mutation in KMT2D and a Literature Review of Ocular Abnormalities
Y Zhang, X Chen, L Ye - 2024 - researchsquare.com
Objective: By summarizing the clinical characteristics and genetic variations, this study aims
to report a case of one child with type I Kabuki syndrome (KS), and to analyze the features …
to report a case of one child with type I Kabuki syndrome (KS), and to analyze the features …