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10.1038/s41439-019-0043-0

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suck abstract from ncbi


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pmid30911400
      Hum+Genome+Var 2019 ; 6 (ä): 13
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  • A pediatric case of hypomagnesemia 1 (HOMG1) caused by novel compound heterozygous mutations in TRPM6 #MMPMID30911400
  • Goda T ; Komatsu H ; Nozu K ; Nakajima H
  • Hum Genome Var 2019[]; 6 (ä): 13 PMID30911400 show ga
  • Hypomagnesemia 1 (HOMG1) is an extremely rare disease with autosomal recessive inheritance that is caused by mutations in the transient receptor potential melastatin 6 gene (TRPM6). Here, we describe a pediatric HOMG1 case with novel compound heterozygous mutations of TRPM6 (c.1483 C?>?T [p.Gln495*] and c.2715del [p.Trp905*]) in a 2-month-old boy who developed refractory seizures due to hypomagnesemia with secondary hypocalcemia.
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