Journal article

5q31.3 Microdeletion Syndrome: Clinical and Molecular Characterization of Two Further Cases

Natasha Brown, Trent Burgess, Robin Forbes, George McGillivray, Andrew Kornberg, Simone Mandelstam, Zornitza Stark

American Journal of Medical Genetics. Part A | WILEY-BLACKWELL | Published : 2013

DOI: 10.1002/ajmg.a.36108

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Keywords

Brain
Purine-Rich Element-Binding Protein a (pura)
Chromosomes, Human, Pair 5
Infant, Newborn
Phenotype
Female
Comparative Genomic Hybridization
Magnetic Resonance Imaging
Pur-Alpha
Facies
3 Microdeletion Syndrome
Chromosome Deletion
Life Sciences & Biomedicine
5q31
Syndrome
Neonatal Hypotonia
Genetics & Heredity
Male
5q31.3 Microdeletion Syndrome
Science & Technology
Humans
Infant