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ey0016.5-4 | New Insight into Rare Skeletal Disorders | ESPEYB16

5.4. Vitamin D-binding protein deficiency and homozygous deletion of the GC gene

CM Henderson , SL Fink , H Bassyouni , B Argiropoulos , L Brown , TJ Laha , KJ Jackson , R Lewkonia , P Ferreira , AN Hoofnagle , JL Marcadier

Abstract: N Engl J Med. 2019;380(12):11501157. PMID: 30893535.In brief: Homozygous deletion of the group-specific component (GC) gene that encodes for vitamin Dbinding protein causes persistently low measurable 25-hydroxy Vitamin D concentrations with no clinical features of rickets or osteomalacia.Comment: Vitamin D and ...

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ey0015.11-6 | New Developments in Monogenic Obesity | ESPEYB15

11.6 Evaluation of a melanocortin-4 receptor (MC4R) agonist (setmelanotide) in MC4R deficiency

TH Collet , B Dubern , J Mokrosinski , H Connors , JM Keogh , E Mendes de Oliveira , E Henning , C Poitou-Bernert , JM Oppert , P Tounian , F Marchelli , R Alili , J Le Beyec , D Pépin , JM Lacorte , A Gottesdiener , R Bounds , S Sharma , C Folster , S Henderson B O'Rahilly , E Stoner , K Gottesdiener , BL Panaro , RD Cone , K Clément , IS Farooqi , LHT Van der Ploeg

To read the full abstract: Mol Metab. 2017 Oct; 6(10): 1321–1329See comment on 11.7...

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ey0016.14-14 | (1) | ESPEYB16

14.14. Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study

J Lord , DJ McMullan , RY Eberhardt , G Rinck , SJ Hamilton , E Quinlan-Jones , E Prigmore , R Keelagher , SK Best , GK Carey , R Mellis , S Robart , IR Berry , KE Chandler , D Cilliers , L Cresswell , SL Edwards , C Gardiner , A Henderson , ST Holden , T Homfray , T Lester , RA Lewis , R Newbury-Ecob , K Prescott , OW Quarrell , SC Ramsden , E Roberts , D Tapon , MJ Tooley , PC Vasudevan , AP Weber , DG Wellesley , P Westwood , H White , M Parker , D Williams , L Jenkins , RH Scott , MD Kilby , LS Chitty , ME Hurles , ER Maher

To read the full abstract: Lancet 2019;393:747757. .This large prospective cohort study recruited from 34 UK fetal medicine units to evaluate the use of prenatal whole genome sequencing in 610 fetuses with a structural abnormality detected on antenatal ultrasound scanning and no chromosomal abnormality. Overall, a diagnostic genetic mutation ...

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ESPE Yearbook of Paediatric Endocrinology

5.4. Vitamin D-binding protein deficiency and homozygous deletion of the GC gene

11.6 Evaluation of a melanocortin-4 receptor (MC4R) agonist (setmelanotide) in MC4R deficiency

14.14. Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study

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