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, CHROMOSOME X OPEN READING FRAME 36
National Institutes of Health
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A fetus with Kabuki syndrome 2 detected by chromosomal microarray analysis.
International journal of clinical and…
Corpus ID: 214643058
BACKGROUND Kabuki syndrome is a rare multiple congenital anomaly syndrome characterized by distinct facial features, intellectual…
A t(5;16) translocation is the likely driver of a syndrome with ambiguous genitalia, facial dysmorphism, intellectual disability, and speech delay
Cold Spring Harbor molecular case studies
Corpus ID: 17065173
Genetic studies grounded on monogenic paradigms have accelerated both gene discovery and molecular diagnosis. At the same time…
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