2 文献回顾以"KBG 综合征 ","ANKRD11"和 "16q24.3 缺失"为关键 词在维普,万方和中国知网数据库检 索从建库至2021 年 4 月发表的中文文献 4 篇,共 计报道6例,其中 3 例为散发[2-4],其余 3 例来 自同一个家系 .[5] 以 ((KBG syndrome ) OR (ANKRD11))OR(16q24.3 microdeletion)为检索 ...
We present a female patient with a dual genetic diagnosis of autosomal dominant tubulointerstitial kidney disease and KBG syndrome. The proband was an 18-year-old woman presenting with intellectual disability, renal insufficiency, and hyperuricemia. Abdominal ultrasonography did not reveal any abnormalities...
The expert consensus statement has not been developed for clinical diagnosis of KBG syndrome primarily stems from its broad phenotypic spectrum and significant variations in symptoms among affected individuals, even within the same family or among unrelated individuals with the same ANKRD11 variant [[...
2 文献回顾以"KBG 综合征 ","ANKRD11"和 "16q24.3 缺失"为关键 词在维普,万方和中国知网数据库检 索从建库至2021 年 4 月发表的中文文献 4 篇,共 计报道6例,其中 3 例为散发[2-4],其余 3 例来 自同一个家系 .[5] 以 ((KBG syndrome ) OR (ANKRD11))OR(16q24.3 microdeletion)为检索 ...
Tethered Cord Syndrome (TCS) is tissue tethering of the spinal cord due to a persistent embryological filum terminale causing subsequent bladder and bowel incontinence, scoliosis, and neurological signs and symptoms in the lower extremities. Tethered cord syndrome in genetic constellations, given the ...
SyndromeAutismIn 1975, Henann et al. first described KBG syndrome.The letters "KBG" were derived from the surnames ofthree unrelated families from which seven patients with thesyndrome were identified. In the original report KBG wasassumed to be an autosomal dominant condition charac-terized by ...
Obsessive Compulsive Symptoms and Psychopathological Profile in Children and Adolescents with KBG Syndrome. Brain Sci. 2019, 9, 313. [Google Scholar] [CrossRef] [Green Version] Ockeloen, C.W.; Willemsen, M.H.; De Munnik, S.; Van Bon, B.W.; De Leeuw, N.; Verrips, A.; Kant, S...
Obsessive Compulsive Symptoms and Psychopathological Profile in Children and Adolescents with KBG Syndrome. Brain Sci. 2019, 9, 313. [Google Scholar] [CrossRef] [Green Version] Ockeloen, C.W.; Willemsen, M.H.; De Munnik, S.; Van Bon, B.W.; De Leeuw, N.; Verrips, A.; Kant, S...