Genetics and Epigenetics (Including Common and Rare Genetic Diseases) 1

13 Apr 2024 6:15 p.m. 7:15 p.m.

Exhibition Hall and Main Foyer

SAT-150 to SAT-170

Time	Session

6:15 p.m. 7:15 p.m.	NEPHRONOPHTHISIS-RELATED ?ILIOPATHY WITH EARLY-ONSET CHRONIC KIDNEY DISEASE IN A CHILD WITH SENSENBRENNER SYNDROME WCN24-AB-2272, Poster Board= SAT-150 Anastasiia Topchii Poster Presenter	NO ALL HYPOMAGNESEMIA AND HYPOKALEMIA IN A YOUNG PATIENT IS GITLEMAN OR BATTER: MODY 5 WCN24-AB-1931, Poster Board= SAT-151 Nestor Almeida Poster Presenter	BEYOND DIALYSIS: IDENTIFYING A NOVEL GENETIC VARIANT IN CLASSIC FABRY DISEASE IN A MALE PATIENT WITH MILD RENAL IMPAIRMENT. WCN24-AB-2157, Poster Board= SAT-152	TUBEROUS SCLEROSIS COMPLEX: CASE REPORT WCN24-AB-1692, Poster Board= SAT-153	Xanthine Incrustation in JJ Stents: a Rare Complication of Urate-Lowering Therapy in Lesch-Nyhan Syndrome with Kidney Stones WCN24-AB-2073, Poster Board= SAT-154 Maria Rosa Caruso Poster Presenter	A Report on a Case of Ruptured Angiomyolipoma in a 31-year old, 27 weeks AOG Gravid Patient with Tuberous Sclerosis Complex WCN24-AB-883, Poster Board= SAT-155 Mary Ann Espina Poster Presenter	GENETIC DIAGNOSIS OF CHRONIC KIDNEY DISEASE: A SINGLE-CENTER STUDY WCN24-AB-2592, Poster Board= SAT-156	TUBEROUS SCLEROSIS AND AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE: REPORT OF A SUSPECTED CASE OF TSC2/PKD1 CONTIGUOUS GENE SYNDROME WCN24-AB-1718, Poster Board= SAT-157 Gustavo Gomes Thomé Poster Presenter	SENIOR LOKEN SYNDROME (AUTOSOMAL RECESSIVE OCULO-RENAL CILIOPATHY) REPORT OF TWO CASES. WCN24-AB-1228, Poster Board= SAT-158	JEJUNAL DIVERTICULOSIS AND ZEBRA BODIES IN FABRY DISEASE: A CASE REPORT WCN24-AB-859, Poster Board= SAT-159 Facundo Graña Poster Presenter	Epidemiology of ADPKD in a medical center in Argentina WCN24-AB-2535, Poster Board= SAT-160	REAL-WORLD EVIDENCE REGARDING RENAL EFFECT OF MIGALASTAT WCN24-AB-2159, Poster Board= SAT-161	COMPLETE PENOSCROTAL TRANSPOSITION AND ASSOCIATED ANOMALIES IN A NEWBORN WCN24-AB-1361, Poster Board= SAT-162 Haruna Mahama Poster Presenter	PREDICTORS OF RAPID PROGRESSION IN A RETROSPECTIVE AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE COHORT IN SOUTH AFRICA: PRELIMINARY RESULTS WCN24-AB-2565, Poster Board= SAT-163 Cedric Xavier Mbobnda Kapche Poster Presenter	NEWLY DETECTED MISSENSE VARIANT IN FABRY DISEASE WCN24-AB-1266, Poster Board= SAT-164 María Navarro De La Chica Poster Presenter	HYPOKALEMIA ASSOCIATED TO 17Q12 DELETION SYNDROME WCN24-AB-2172, Poster Board= SAT-165	NOVEL VARIANTS IN THE GATM GENE CAUSE FANCONI SYNDROME IN 2 CHILDREN WCN24-AB-1657, Poster Board= SAT-166 Larisa Prikhodina Poster Presenter	OROFACIODIGITAL SYNDROME TYPE 1: CLINICAL AND GENETIC HETEROGENEITY WCN24-AB-2038, Poster Board= SAT-167 Olga Serebryakova Poster Presenter	ADOLESCENT NEPHRONOPTHISIS CAUSED BY AN NPHP 1 GENE MUTATION WCN24-AB-2609, Poster Board= SAT-168 Yesha Shah Poster Presenter	UNRAVELLING THE GENETIC COMPLEXITY OF JUVENILE NEPHRONOPHTHISIS: A NOVEL TTC21B MUTATION AND POTENTIAL FOR ADOLESCENT ONSET WCN24-AB-2572, Poster Board= SAT-169 Wesley Van Hougenhouck-Tulleken Poster Presenter	Primary Hyperoxaluria with Cardiac Involvement: A Case Report WCN24-AB-947, Poster Board= SAT-170 Christine Zomer Dal Molin Poster Presenter