About this Research Topic
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.
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.
Keywords: consanguineous, rare genetic diseases, genetics, pediatrics, molecular genetic testing, genetic family study
Important Note: All contributions to this Research Topic must be within the scope of the section and journal to which they are submitted, as defined in their mission statements. Frontiers reserves the right to guide an out-of-scope manuscript to a more suitable section or journal at any stage of peer review.
