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Pontocerebellar hypoplasi er en sjælden årsag til slapt spædbarn
Translated title of the contribution
:
Pontocerebellar hypoplasia is a rare cause of floppy infant syndrome
Susanne Christiansen, Laura Kirstine Sønderberg Roos,
Maria J Miranda
Medical Genetics Program
Department of Clinical Medicine
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Dive into the research topics of 'Pontocerebellar hypoplasia is a rare cause of floppy infant syndrome'. Together they form a unique fingerprint.
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Keyphrases
Rare Cause
100%
Cerebellar Hypoplasia
100%
Most Common Cause
25%
Neonate
25%
Autosomal Recessive
25%
Diagnostic Challenge
25%
Loss of Heterozygosity
25%
Array Comparative Genomic Hybridization (aCGH)
25%
Biochemistry, Genetics and Molecular Biology
Loss of Heterozygosity
100%
Autosomal Recessive Disorder
100%
Array Comparative Genomic Hybridization
100%
Medicine and Dentistry
Hypoplasia
100%
Autosomal Recessive Disorder
25%
Array Comparative Genomic Hybridization
25%
Heterozygosity
25%
Neonate
25%
Diagnosis
25%
Pharmacology, Toxicology and Pharmaceutical Science
Hypoplasia
100%
Syndrome
100%
Autosomal Recessive Disorder
25%
Neuroscience
Hypoplasia
100%
Comparative Genomics
33%
Autosomal Recessive Disorder
33%