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DeCS
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Descriptor English:
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Short Stature Homeobox Protein
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Descriptor Spanish:
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Proteína de la Caja Homeótica de Baja Estatura
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Descriptor Portuguese:
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Proteína de Homoeobox de Baixa Estatura
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Synonyms English:
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GCFX Protein
PHOG Protein
SHOX Protein
SHOXY Protein
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Tree Number:
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D12.776.260.400.859
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Definition English:
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A homeodomain protein that is highly expressed in the nuclei of skeletal muscle, bone marrow, and osteogenic cells and has critical roles in growth and development. Its gene resides within PSEUDOAUTOSOMAL REGION 1 of X and Y chromosomes and mutations are associated with several growth disorders including LERI-WEIL SYNDROME; LANGER MESOMELIC DYSPLASIA; and SHORT STATURE, IDIOPATHIC, X-LINKED. |
History Note English:
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2018
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Allowable Qualifiers English:
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Record Number:
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57111
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Unique Identifier:
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D000074122
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Occurrence in VHL:
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Similar:
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DeCS
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