Switch to
| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
4
|
| pubmed:dateCreated |
1994-5-26
|
| pubmed:abstractText |
Three male patients with X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome in a large French family are reported. Diagnosis was suspected on particular craniofacial dysmorphism associated with severe mental retardation and X-linked transmission. Hematological investigations, and in particular presence of Hb H inclusions in two of the boys, confirmed diagnosis. The clinical, hematological and radiological features are discussed in order to better define what appears to be a characteristic phenotype.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:status |
MEDLINE
|
| pubmed:issn |
0003-3995
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
36
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
200-5
|
| pubmed:dateRevised |
2011-11-17
|
| pubmed:meshHeading |
pubmed-meshheading:8166424-Child, Preschool,
pubmed-meshheading:8166424-Facial Bones,
pubmed-meshheading:8166424-France,
pubmed-meshheading:8166424-Genetic Linkage,
pubmed-meshheading:8166424-Hematologic Tests,
pubmed-meshheading:8166424-Humans,
pubmed-meshheading:8166424-Infant,
pubmed-meshheading:8166424-Intellectual Disability,
pubmed-meshheading:8166424-Karyotyping,
pubmed-meshheading:8166424-Male,
pubmed-meshheading:8166424-Pedigree,
pubmed-meshheading:8166424-Skull,
pubmed-meshheading:8166424-Syndrome,
pubmed-meshheading:8166424-X Chromosome,
pubmed-meshheading:8166424-alpha-Thalassemia
|
| pubmed:year |
1993
|
| pubmed:articleTitle |
X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome. Report of three male patients in a large French family.
|
| pubmed:affiliation |
Laboratoire de Cytogénétique, Hôpital St-Charles, CHU de Montpellier, France.
|
| pubmed:publicationType |
Journal Article,
Case Reports
|