The progression of Wiedemann-Steiner syndrome in adulthood and two novel variants in the KMT2A gene.doi:10.1002/ajmg.a.60698Hailey R. FeldmanStephen R. DlouhyMelissa D. LahKatelyn K. PayneDavid D. WeaverAm J Med Genet A
Wiedemann-Steiner syndrome (WDSTS) is a very rare genetic disorder characterized by short stature, intellectual disability and distinctive facial appearance. We present a five-year-old boy who was diagnosed with WDSTS based on identification of a novel de novo pathogenic variant in the KMT2A gene...
A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.###De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified ...
Wiedemann‐Steiner syndromeBackground Wiedemann㏒teiner Syndrome (WSS) is an autosomal dominant genetic condition caused by mutations in the KMT2A gene. Lysine methyltransferase, encoded by KMT2A, plays critical roles in the regulation of gene expression during early development. Methods Trio‐based ...
This study examined anxiety in Wiedemann–Steiner syndrome (WSS). Eighteen caregivers and participants with WSS completed the parent‐ and self‐report versions of the Screen for Child Anxiety Related Disorder or the adapted version of the Screen for Adult Anxiety Related Disorder. Approximately 33.33...
Wiedemann-Steiner Syndrome with Variants of Uncertain Significance in Spermatogenesis Associated 5 and Lysine Methyltransferase 2A GenesG. Shilpa ReddyShehnaz SultanaSujatha MadireddyPratibha NallariVenkateshwari Ananthapur
Wiedemann-Steiner syndromeDisorders of gonadal developmentSex determinationWe report the case of a female patient suffering from a 46,XY disorder of sexual development () with complete and Wiedemann-Steiner Syndrome (WDSTS). The coexistence of these 2 conditions has not yet been reported. Using ...
Wiedemann-SteinersyndromeHairyelbowsKMT2AWiedemann-Steiner syndrome(OMIM#605130)is a rare congenital malformation syndrome characterized by hypertrichosis cubiti associated with short stature;consistent facial features,including long eyelashes,thick or arched eyebrows with a lateral flare,wide nasal bridge,and...
[Wiedemann-Steiner syndrome due to novel nonsense variant of KMT2A gene in a case] 来自 NCBI 喜欢 0 阅读量: 78 作者:H Xue,Y Feng,C Zhang,L Ma,Z Cao 摘要: Objective: To explore the genetic basis for a child with unexplained global developmental delay (GDD), seizure, and facial ...
Objective: Wiedemann-Steiner syndrome (WSS) is a rare autosomal dominant disorder caused by deleterious heterozygous variants of the KMT2A gene. This study aims to describe the phenotypic and genotypic features of Chinese WSS patients, and assess therapeutic effects of recombinant h...