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COL4A1‐related disorder as a mimic of congenital TORCHES infection—Expanding the clinical, neuroimaging and genotype spectrum
by
Kukulka, Natalie A.
,
Zarei, Sanam
,
Glass, Joshua
,
Bouska, Cecilia
,
Schroder, Jason
,
Sen, Kuntal
Published in
American journal of medical genetics. Part A
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Pyridoxal phosphate binding protein (PLPBP) deficiency mimicking opsoclonus‐myoclonus‐ataxia syndrome
by
Takle, Mrinmayee
,
Sahjwani, Dhwani
,
Bharucha‐Goebel, Diana
,
Rapp, Tyler
,
Bouska, Cecilia
,
Kornbluh, Alexandra
,
Sen, Kuntal
Published in
Annals of the Child Neurology Society
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American Journal Of Medical Genetics. Part A
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Annals Of The Child Neurology Society
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Arrhythmia
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Autosomal Dominant Inheritance
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Brain - Abnormalities
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Brain - Diagnostic Imaging
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Brain - Pathology
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Col4A1‐Related Disorder
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Collagen
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Collagen Type Iv - Genetics
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Coronary Artery Disease
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Diagnosis, Differential
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Female
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Genetic Disorders
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Genetic Variability
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Genetics & Heredity
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Genotype
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Genotypes
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Heart Diseases
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Hemorrhage
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Infant
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