TWO HEREDITARY DISEASES IN A CHILD. CASE REPORT

The article presents a case with two hereditary diseases in a patient. It shows clinical manifestations, results of instrumental and laboratory data in a patient with established pathogenic variants c.547_550delAAAG (p.Lys183Leufs*21) and c.2669T>G (p.Leu890Arg) in the IARS2 gene and a deletion of 15q11.2 of 578.8 kb (NC_00000015.9:g.22833525_23412276).

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Publication Details

Journal
MODERN PERINATAL MEDICAL TECHNOLOGIES IN SOLVING THE PROBLEM OF DEMOGRAPHIC SECURITY
Published
2024-12-01
DOI
https://doi.org/10.63030/2307-4795/2024.17.g.006
Primary Topic
Digestive system and related health
Type
article
Field-Weighted Citation Impact
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article

TWO HEREDITARY DISEASES IN A CHILD. CASE REPORT

O.L. ZOBIKOVA, T.V. DEMIDOVICH
MODERN PERINATAL MEDICAL TECHNOLOGIES IN SOLVING THE PROBLEM OF DEMOGRAPHIC SECURITY
Digestive system and related health
article

TWO HEREDITARY DISEASES IN A CHILD. CASE REPORT

O.L. ZOBIKOVA, T.V. DEMIDOVICH
article en

Abstract

The article presents a case with two hereditary diseases in a patient. It shows clinical manifestations, results of instrumental and laboratory data in a patient with established pathogenic variants c.547_550delAAAG (p.Lys183Leufs*21) and c.2669T>G (p.Leu890Arg) in the IARS2 gene and a deletion of 15q11.2 of 578.8 kb (NC_00000015.9:g.22833525_23412276).

MODERN PERINATAL MEDICAL TECHNOLOGIES IN SOLVING THE PROBLEM OF DEMOGRAPHIC SECURITY(17)
Openalex Percentile: Top 72%
Digestive system and related health
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TWO HEREDITARY DISEASES IN A CHILD. CASE REPORT — O.L. ZOBIKOVA, T.V. DEMIDOVICH · MODERN PERINATAL MEDICAL TECHNOLOGIES IN SOLVING THE PROBLEM OF DEMOGRAPHIC SECURITY (2024) | TGRS Research Map | TGRS