Schimke immuno-osseous dysplasia(redirected from immunoosseous dysplasia, Schimke type)
Schimke immuno-osseous dysplasiaAn autosomal recessive condition (OMIM:242900) characterised by spondyloepiphyseal dysplasia with growth retardation, renal failure, T-cell immunodeficiency and recurrent infections, skin pigmentation beginning in childhood and, in about half of patients, hyperthyroidism; about half have episodic cerebral ischaemia with infarcts.
Defects of SMARCAL1, which encodes a protein with helicase and ATPase activities that regulates gene transcription, cause Schimke immuno-osseous dysplasia.
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