1.
J Pediatr Genet
; 13(1): 35-42, 2024 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38567178
RESUMO
HOMG1 (hypomagnesemia 1, intestinal) or hypomagnesemia with secondary hypocalcemia is a rare autosomal recessive disorder of magnesium metabolism, characterized by impaired magnesium absorption. This disorder may mimic other conditions presenting with neonatal seizures. Here, we report an infant diagnosed to have hypomagnesemia with secondary hypocalcemia due to novel variants in TRPM6 gene.