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ey0016.2-2 | Neonatal Hypoglycaemia | ESPEYB16

2.2. Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 9 affected individuals

KL Yap , AEK Johnson , D Fischer , P Kandikatla , J Deml , V Nelakuditi , S Halbach , GS Jeha , LC Burrage , O Bodamer , VC Benavides , AM Lewis , S Ellard , P Shah , D Cody , A Diaz , A Devarajan , L Truong , SAW Greeley , DD De Leon , AC Edmondson , S Das , P Thornton , D Waggoner , D Del Gaudio

To read the full abstract: Genet Med. 2019 Jan;21(1):233242.This study documented the clinical features and molecular diagnoses of 9 infants with persistent hyperinsulinism and Kabuki syndrome via a combination of sequencing and copy-number profiling methodologies.KS is characterized by typical facial features (long palpebral fissures with eversion of the lat...

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ey0017.14-8 | (1) | ESPEYB17

14.8. Patient-customized oligonucleotide therapy for a rare genetic disease

J Kim , C Hu , C Moufawad El Achkar , LE Black , J Douville , A Larson , MK Pendergast , SF Goldkind , EA Lee , A Kuniholm , A Soucy , J Vaze , NR Belur , K Fredriksen , I Stojkovska , A Tsytsykova , M Armant , RL DiDonato , J Choi , L Cornelissen , LM Pereira , EF Augustine , CA Genetti , K Dies , B Barton , L Williams , BD Goodlett , BL Riley , A Pasternak , ER Berry , KA Pflock , S Chu , C Reed , K Tyndall , PB Agrawal , AH Beggs , PE Grant , DK Urion , RO Snyder , SE Waisbren , A Poduri , PJ Park , A Patterson , A Biffi , JR Mazzulli , O Bodamer , CB Berde , TW. Yu

To read the full abstract: N Engl J Med. 2019 Oct 24;381(17):1644-1652. doi: 10.1056/NEJMoa1813279.This remarkable case report - by authors from Boston Childrens Hospital and funded by Milas Miracle Foundation - describes the development and use of a patient-customised antisense oligonucleotide drug that was tailored specifically against the unique DNA sequence mutation in a 6-ye...

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ESPE Yearbook of Paediatric Endocrinology

2.2. Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 9 affected individuals

14.8. Patient-customized oligonucleotide therapy for a rare genetic disease

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