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2. A Rare Cause of Hyperinsulinemic Hypoglycemia: Kabuki Syndrome. Mısırlıgil M; Yıldız Y; Akın O; Odabaşı Güneş S; Arslan M; Ünay B J Clin Res Pediatr Endocrinol; 2021 Nov; 13(4):452-455. PubMed ID: 32830475 [TBL] [Abstract][Full Text] [Related]
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5. Persistent Hypoglycemia and Hyperinsulinism in a Patient With Nunez Stosic M; Gomez P JCEM Case Rep; 2023 Mar; 1(2):luad032. PubMed ID: 37908464 [TBL] [Abstract][Full Text] [Related]
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11. Case Report: An Infant With Kabuki Syndrome, Alobar Holoprosencephaly and Truncus Arteriosus: A Case for Whole Exome Sequencing in Neonates With Congenital Anomalies. Sakaria RP; Zaveri PG; Holtrop S; Zhang J; Brown CW; Pivnick EK Front Genet; 2021; 12():766316. PubMed ID: 34899850 [TBL] [Abstract][Full Text] [Related]
12. [One novel pathologic variation in Qiu SW; Yuan YY Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi; 2019 Sep; 33(9):820-824. PubMed ID: 31446696 [No Abstract] [Full Text] [Related]
13. Neonatal hyperinsulinemic hypoglycemia: case report of kabuki syndrome due to a novel KMT2D splicing-site mutation. Piro E; Schierz IAM; Antona V; Pappalardo MP; Giuffrè M; Serra G; Corsello G Ital J Pediatr; 2020 Sep; 46(1):136. PubMed ID: 32948218 [TBL] [Abstract][Full Text] [Related]
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15. Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 9 affected individuals. Yap KL; Johnson AEK; Fischer D; Kandikatla P; Deml J; Nelakuditi V; Halbach S; Jeha GS; Burrage LC; Bodamer O; Benavides VC; Lewis AM; Ellard S; Shah P; Cody D; Diaz A; Devarajan A; Truong L; Greeley SAW; De Leó-Crutchlow DD; Edmondson AC; Das S; Thornton P; Waggoner D; Del Gaudio D Genet Med; 2019 Jan; 21(1):233-242. PubMed ID: 29907798 [TBL] [Abstract][Full Text] [Related]
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17. Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development. Van Laarhoven PM; Neitzel LR; Quintana AM; Geiger EA; Zackai EH; Clouthier DE; Artinger KB; Ming JE; Shaikh TH Hum Mol Genet; 2015 Aug; 24(15):4443-53. PubMed ID: 25972376 [TBL] [Abstract][Full Text] [Related]
18. Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2. Bögershausen N; Gatinois V; Riehmer V; Kayserili H; Becker J; Thoenes M; Simsek-Kiper PÖ; Barat-Houari M; Elcioglu NH; Wieczorek D; Tinschert S; Sarrabay G; Strom TM; Fabre A; Baynam G; Sanchez E; Nürnberg G; Altunoglu U; Capri Y; Isidor B; Lacombe D; Corsini C; Cormier-Daire V; Sanlaville D; Giuliano F; Le Quan Sang KH; Kayirangwa H; Nürnberg P; Meitinger T; Boduroglu K; Zoll B; Lyonnet S; Tzschach A; Verloes A; Di Donato N; Touitou I; Netzer C; Li Y; Geneviève D; Yigit G; Wollnik B Hum Mutat; 2016 Sep; 37(9):847-64. PubMed ID: 27302555 [TBL] [Abstract][Full Text] [Related]
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