Sasiprapa Prommanee

Abstract The molecular basis of impaired lactate clearance and exercise-induced lactic acidemia remains largely unknown. Here, we report a 10-year-old Thai girl, born to consanguineous parents, with growth delay and partial growth hormone deficiency. The proband underwent detailed clinical phenotyping, exercise stress testing, metabolic profiling, and genome sequencing.

Abstract Lobodontia, a rare dental anomaly marked by supernumerary cusps and a single pyramid-shaped molar root, has been previously linked to a variant in the CACNA1S gene without definitive evidence. This study investigates 17 patients with lobodontia from Thai and Croatian families. Microsatellite genotyping defines a 15.4 Mbp critical region encompassing CACNA1S and ASCL5 among Thai families.