Journal article

Characterization of Core Clinical Phenotypes Associated With Recurrent Proximal 15q25.2 Microdeletions

Trent Burgess, Natasha J Brown, Zornitza Stark, Damien L Bruno, Ralph Oertel, Belinda Chong, Vanessa Calabro, Andrew Kornberg, Christine Sanderson, Julian Kelly, Katherine B Howell, Ravi Savarirayan, Rupert Hinds, Anthea Greenway, Howard R Slater, Susan M White

American Journal of Medical Genetics. Part A | WILEY-BLACKWELL | Published : 2014

DOI: 10.1002/ajmg.a.36203

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Keywords

Anemia
Comparative Genomic Hybridization
Life Sciences & Biomedicine
Intellectual Disability
Abnormalities, Multiple
Child, Preschool
Chromosome Mapping
Diamond-Blackfan Anemia
Gene Deletions
15q25
Infant
Short Stature
Male
Humans
Rps17l
Adolescent
Genetics & Heredity
2
Child
Heterozygote
Science & Technology
Chromosomes, Human, Pair 15
15q25.2
Microdeletion
Polymorphism, Single Nucleotide
Female
Phenotype
Syndrome
Chromosome Deletion