Highly Consanguineous Populations and Rare Genetic Diseases in Pediatrics

35.6K

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78

authors

11

articles

Highly Consanguineous Populations and Rare Genetic Diseases in Pediatrics

35.6K

views

78

authors

11

articles

Editors

2

Naglaa M Kamal

Kasr Al Ainy Hospital, Faculty of Medicine, Cairo University

Laila Sherief

Faculty of Medicine, Zagazig University

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About

This Research Topic will shed light on rare pediatric genetic diseases as a result of a consanguineous union. Most diseases caused by consanguinity are frequently missed by general pediatricians. Therefore, the goal of this Research Topic is to update the information on diseases caused by consanguinity to aid in their early diagnosis and genetic counselling to prevent further cases. All diseases will be confirmed by molecular genetic testing with an extended genetic family study.

This article collection welcomes studies on, but not limited to, the following themes:

Congenital pancreatic lipase deficiency
Primordial dwarfism
Niemann Pick Disease
Pearson syndrome
Ectodermal dysplasia pain insensitivity
Ehlars danlos syndrome
Familial glucocorticoid deficiency
Renal tubular acidosis and cholestasis
COACH syndrome
Progressive familial intrahepatic cholestasis
Bile acid synthesis defect

Studies addressing phenotype expansions, functional models, use of these populations to identify genetic modifiers, and novel diagnostic methodologies are also welcomed.

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Editors

Naglaa M Kamal

Kasr Al Ainy Hospital, Faculty of Medicine, Cairo University

Laila Sherief

Faculty of Medicine, Zagazig University

Impact

35,559 Total views

25,383 Article views

9,389 Article downloads

787 Topic views

Published In

Frontiers in Pediatrics

Genetics of Common and Rare Diseases

Frontiers in Genetics

Genetics of Common and Rare Diseases

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