Name: PubCaseFinder
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Keywords: PubCaseFinder,PCF,Rare Disease,Phenotype,Gene,Match,Assist

Refractory anemia

Refractory cytopenias with unilineage dysplasia (RCUD) is a frequent low-risk subtype of myelodysplastic syndrome (MDS; see this term) characterized by refractory cytopenias associated with dysplasia limited to one cell lineage.

Diaphyseal dysplasia

Total: 2

(per page)

PMID (PMCID)
17203301	MIXED_SAMPLE	Infant
	A gene responsible for Ghosal hemato-diaphyseal dysplasia maps to chromosome 7q33-34.
	Isidor B, Dagoneau N, Huber C, Genevieve D, Bader-Meunier B, Blanche S, Picard C, De Vernejoul MC, Munnich A, Le Merrer M, Cormier-Daire V. Hum Genet. 2007;121(2):269-73.
	Ghosal hemato-diaphyseal dysplasia is a rare autosomal recessive disorder characterized by a progressive sclerosing diaphyseal dysplasia and refractory anemia.
17203301	MIXED_SAMPLE	Infant
	A gene responsible for Ghosal hemato-diaphyseal dysplasia maps to chromosome 7q33-34.
	Isidor B, Dagoneau N, Huber C, Genevieve D, Bader-Meunier B, Blanche S, Picard C, De Vernejoul MC, Munnich A, Le Merrer M, Cormier-Daire V. Hum Genet. 2007;121(2):269-73.
	Ghosal hemato-diaphyseal dysplasia is a rare autosomal recessive disorder characterized by a progressive sclerosing diaphyseal dysplasia and refractory anemia.