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Publications by Sumito Dateki

SLC25A13 Gene Analysis in Citrin Deficiency: Sixteen Novel Mutations in East Asian Patients, and the Mutation Distribution in a Large Pediatric Cohort in China

PLoS ONE
Multidisciplinary
2013English

KAT6B-related Disorder in a Patient With a Novel Frameshift Variant (C.3925dup)

Human Genome Variation
BiochemistryGeneticsMolecular Biology
2019English

ACAN Mutations as a Cause of Familial Short Stature

Clinical Pediatric Endocrinology
Child HealthEndocrinologyPerinatologyPediatricsMetabolismDiabetes
2017English

A Novel Heterozygous GLI2 Mutation in a Patient With Congenital Urethral Stricture and Renal Hypoplasia/Dysplasia Leading to End-Stage Renal Failure

CEN Case Reports
Nephrology
2018English

A Japanese Patient With a Mild Lenz–Majewski Syndrome

Journal of Human Genetics
Genetics
2007English

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