No abstract available
Publication types
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Case Reports
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Letter
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Research Support, Non-U.S. Gov't
MeSH terms
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Adolescent
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Adult
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Body Height / genetics
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Body Height / physiology
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Cerebellar Ataxia / diagnosis*
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Cerebellar Ataxia / genetics
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Cerebellar Ataxia / pathology
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Choroid Diseases / diagnosis*
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Choroid Diseases / genetics
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Choroid Diseases / pathology
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Consanguinity
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Diagnosis, Differential
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Female
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Genes, Recessive / genetics
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Gonadotropins / genetics
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Gonadotropins / metabolism
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Growth Disorders / diagnosis*
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Growth Disorders / genetics
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Growth Disorders / pathology
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Humans
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Hypogonadism / diagnosis*
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Hypogonadism / genetics
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Hypogonadism / pathology
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Male
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Neutrophils / chemistry
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Neutrophils / metabolism
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Neutrophils / pathology*
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Pedigree
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Retinal Degeneration / diagnosis*
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Retinal Degeneration / genetics
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Retinal Degeneration / pathology
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Syndrome