No abstract available
Keywords:
Clinical utility; Exome sequencing; Galloway Mowat syndrome; LAGE3; Microcephaly; Nephrotic syndrome.
MeSH terms
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Carrier Proteins / genetics*
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Chromosomes, Human, X / genetics*
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Exome Sequencing
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Failure to Thrive / complications
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Failure to Thrive / diagnosis
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Failure to Thrive / genetics*
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Fatal Outcome
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Genetic Testing / methods
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Hernia, Hiatal / diagnosis*
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Hernia, Hiatal / genetics
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Humans
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Infant
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Male
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Microcephaly / diagnosis*
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Microcephaly / genetics
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Nephrosis / diagnosis*
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Nephrosis / genetics
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Nephrotic Syndrome / complications
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Nephrotic Syndrome / diagnosis
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Nephrotic Syndrome / genetics*
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Nephrotic Syndrome / therapy
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RNA Splice Sites / genetics
Substances
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Carrier Proteins
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LAGE3 protein, human
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RNA Splice Sites