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References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 09/05/07
Symbol GHDD
Location 7q33-q34
Name Ghosal hemato-diaphyseal dysplasia
Corresponding gene TBXAS1
Main clinical features
  • progressive sclerosing diaphyseal dysplasia affecting also metaphyses and refractory anemia, aregenerative corticosensitive anemia . radiologically, wide medullary cavities in the long bones with discrete cortical hyperostosis, the smooth surface of the long bones , no periosteal and only endosteal hyperostosis ; bone marrow was hypocellular
  • Genetic determination autosomal recessive
    Function/system disorder hematology
    osteo-articular
    Type disease