Hypomagnesemia with Secondary Hypoparathyroidism and Hypocalcemia due to Novel Variants in the Transient Receptor Potential Cation Channel Subfamily M Member 6 (TRPM6) Gene-Reference-Cited by-同舟云学术

Hypomagnesemia with Secondary Hypoparathyroidism and Hypocalcemia due to Novel Variants in the Transient Receptor Potential Cation Channel Subfamily M Member 6 (TRPM6) Gene

Published:2021-08-31 Issue: Volume: Page:
ISSN:2146-4596
Container-title:Journal of Pediatric Genetics
language:en
Short-container-title:J Pediatr Genet

Author:

Jain Geetanjali¹,Das Gourab²,Malhotra Rakhi³,Ramchandran Sateesh³,Phani Nagaraja M.⁴,Appaswamy Giridharan⁵,Sridharan Upasana⁵,Dwivedi Aradhana⁶

Affiliation:

1. Military Hospital, Nasirabad, India

2. Army Hospital (Research and Referral), New Delhi, India

3. Department of Endocrinology, Army Hospital (Research and Referral), New Delhi, Delhi, India

4. Department of Molecular Genetics, Life cell Diagnostics Pvt. Ltd., India

5. Life Cell Diagnostic Pvt. Ltd., Chennai, Tamil Nadu, India

6. Department of Pediatrics, Division of Clinical Genetics, Army Hospital (Research and Referral), New Delhi, India

Abstract

AbstractHOMG1 (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.

Publisher

Georg Thieme Verlag KG

Subject

Genetics(clinical),Pediatrics, Perinatology, and Child Health

Link

http://www.thieme-connect.de/products/ejournals/pdf/10.1055/s-0041-1733949.pdf

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