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http://purl.uniprot.org/citations/15342903http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/15342903http://www.w3.org/2000/01/rdf-schema#comment"

Clinical findings

Aplastic anemia was diagnosed at birth for a first child from healthy nonconsanguineous parents. The girl had hypoglycemia, which normalized within 2 months. Cow milk allergy was suspected initially, because of skin lesions and diarrhea, followed by severe growth retardation. Clinical and radiologic symptoms gradually became typical for Shwachman-Diamond syndrome. Two common mutations in the SBDS gene (183-184TA-->CT [K62X] and IVS2(258)+2T--> C [C84fs]) were found.

Results

Bone marrow transplantation from a matched unrelated donor was unsuccessful. The genetic information from the deceased patient enabled us to perform prenatal molecular studies during the subsequent pregnancy, successfully predicting a nonaffected child.

Conclusions

This report describes for the first time the hematologic abnormalities of congenital aplastic anemia and prolonged neonatal hypoglycemia as the presenting symptoms of Shwachman-Diamond syndrome. The finding of common mutations in the presence of these symptoms at birth suggests the lack of a clear phenotype-genotype relationship in this syndrome."xsd:string
http://purl.uniprot.org/citations/15342903http://purl.org/dc/terms/identifier"doi:10.1542/peds.2003-0651-f"xsd:string
http://purl.uniprot.org/citations/15342903http://purl.uniprot.org/core/author"Hennekam R.C."xsd:string
http://purl.uniprot.org/citations/15342903http://purl.uniprot.org/core/author"Alders M."xsd:string
http://purl.uniprot.org/citations/15342903http://purl.uniprot.org/core/author"Kuijpers T.W."xsd:string
http://purl.uniprot.org/citations/15342903http://purl.uniprot.org/core/author"Bredius R."xsd:string
http://purl.uniprot.org/citations/15342903http://purl.uniprot.org/core/author"Nannenberg E."xsd:string
http://purl.uniprot.org/citations/15342903http://purl.uniprot.org/core/date"2004"xsd:gYear
http://purl.uniprot.org/citations/15342903http://purl.uniprot.org/core/name"Pediatrics"xsd:string
http://purl.uniprot.org/citations/15342903http://purl.uniprot.org/core/pages"e387-91"xsd:string
http://purl.uniprot.org/citations/15342903http://purl.uniprot.org/core/title"Congenital aplastic anemia caused by mutations in the SBDS gene: a rare presentation of Shwachman-Diamond syndrome."xsd:string
http://purl.uniprot.org/citations/15342903http://purl.uniprot.org/core/volume"114"xsd:string
http://purl.uniprot.org/citations/15342903http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/15342903
http://purl.uniprot.org/citations/15342903http://xmlns.com/foaf/0.1/primaryTopicOfhttps://pubmed.ncbi.nlm.nih.gov/15342903
http://purl.uniprot.org/uniprot/Q9Y3A5#attribution-3D14D87AA3EDE9715BEF524113D93088http://purl.uniprot.org/core/sourcehttp://purl.uniprot.org/citations/15342903