Poster Group 1 - Friday
Tracks
Track 1
| Friday, November 9, 2018 |
| 9:55 AM - 10:40 AM |
Speaker
Dr Shreya Sharma
Fellow, Pediatric Endocrinology
Bai Jerbai Wadia Hospital for Children
LIPOID CONGENITAL ADRENAL HYPERPLASIA DUE TO STAR MUTATION- A CASE SERIES FROM INDIA
9:55 AM - 10:01 AM
Dr Anuradha Khadilkar
Deputy Director, HCJMRI
Hcjmri & Jehangir Hospital Pune
Characterization of CYP21A2 mutations in Indian patients with congenital adrenal hyperplasia using a novel targeted next generation sequencing assay.
10:01 AM - 10:07 AM
Dr Nalini Selveindran
Paediatric Endocrinologist
Hospital Putrajaya
Mixed Gonadal Dysgenesis (45,X/46,XY) : Phenotypic Characteristics and Outcome.
10:07 AM - 10:13 AM
Guoying Chang
Inpatient Doctor
Shanghai Children's Medical Center affiliated to Shanghai Jiaotong University School of Medicine
Targeted/exome sequencing identified mutations in 55 Chinese children diagnosed with Noonan syndrome and a autosomal recessive form associated with LZTR1 variants
10:13 AM - 10:19 AM
Guoying Chang
Inpatient Doctor
Shanghai Children's Medical Center affiliated to Shanghai Jiaotong University School of Medicine
Clinical and molecular genetic characterization of five patients with mutations in GNAS gene
10:19 AM - 10:25 AM
Dr Jinwen Ni
Attending Pediatrician
Deparment Of Pediatric Endocrinology And Inborn Metabolic Diseases, Children's Hospital Of Fudan University
Genotype and Phenotype Analysis of Chinese Patients with Congenital Hyperinsulinism
10:25 AM - 10:31 AMAPPES Conference Secretariat
A: PO Box 180, Morisset NSW 2264 Australia
T: +61 2 4973 6573
F: +61 2 4973 6609
E: conference@appes.org
