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Hypomagnesemia with Secondary Hypoparathyroidism and Hypocalcemia due to Novel Variants in the Transient Receptor Potential Cation Channel Subfamily M Member 6 ( TRPM6 ) Gene.
Jain, Geetanjali; Das, Gourab; Malhotra, Rakhi; Ramchandran, Sateesh; Phani, Nagaraja M; Appaswamy, Giridharan; Sridharan, Upasana; Dwivedi, Aradhana.
Afiliação
  • Jain G; Military Hospital, Nasirabad, India.
  • Das G; Army Hospital (Research and Referral), New Delhi, India.
  • Malhotra R; Department of Endocrinology, Army Hospital (Research and Referral), New Delhi, Delhi, India.
  • Ramchandran S; Department of Endocrinology, Army Hospital (Research and Referral), New Delhi, Delhi, India.
  • Phani NM; Department of Molecular Genetics, Life cell Diagnostics Pvt. Ltd., India.
  • Appaswamy G; Life Cell Diagnostic Pvt. Ltd., Chennai, Tamil Nadu, India.
  • Sridharan U; Life Cell Diagnostic Pvt. Ltd., Chennai, Tamil Nadu, India.
  • Dwivedi A; Department of Pediatrics, Division of Clinical Genetics, Army Hospital (Research and Referral), New Delhi, India.
J Pediatr Genet ; 13(1): 35-42, 2024 Mar.
Article em En | MEDLINE | ID: mdl-38567178
ABSTRACT
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.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: J Pediatr Genet Ano de publicação: 2024 Tipo de documento: Article País de afiliação: Índia País de publicação: Alemanha

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: J Pediatr Genet Ano de publicação: 2024 Tipo de documento: Article País de afiliação: Índia País de publicação: Alemanha