| pubmed-article:8014976 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:8014976 | lifeskim:mentions | umls-concept:C0002312 | lld:lifeskim |
| pubmed-article:8014976 | lifeskim:mentions | umls-concept:C1136249 | lld:lifeskim |
| pubmed-article:8014976 | lifeskim:mentions | umls-concept:C0031437 | lld:lifeskim |
| pubmed-article:8014976 | pubmed:issue | 3 | lld:pubmed |
| pubmed-article:8014976 | pubmed:dateCreated | 1994-7-27 | lld:pubmed |
| pubmed-article:8014976 | pubmed:abstractText | Two sibs with non-deletional alpha thalassaemia and mental retardation (ATR-X) have been ascertained showing variable neurological features. The proband had a complex neurological picture with recurrent apnoea, complex partial seizures, and prolonged periods of semiconsciousness between 12 and 17 months of age. Episodes of spontaneous laughter were also a feature. An EEG was initially normal. Hb H inclusions were present but rare in this family. The sole genital anomaly was deficiency of the foreskin, a feature not previously described in ATR-X. | lld:pubmed |
| pubmed-article:8014976 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:8014976 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:8014976 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:8014976 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:8014976 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:8014976 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:8014976 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:8014976 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:8014976 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:8014976 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:8014976 | pubmed:language | eng | lld:pubmed |
| pubmed-article:8014976 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:8014976 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:8014976 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:8014976 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:8014976 | pubmed:month | Mar | lld:pubmed |
| pubmed-article:8014976 | pubmed:issn | 0022-2593 | lld:pubmed |
| pubmed-article:8014976 | pubmed:author | pubmed-author:CunninghamCC | lld:pubmed |
| pubmed-article:8014976 | pubmed:author | pubmed-author:SillenceDD | lld:pubmed |
| pubmed-article:8014976 | pubmed:author | pubmed-author:OgleRR | lld:pubmed |
| pubmed-article:8014976 | pubmed:author | pubmed-author:KerrBB | lld:pubmed |
| pubmed-article:8014976 | pubmed:author | pubmed-author:DeSouzaMM | lld:pubmed |
| pubmed-article:8014976 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:8014976 | pubmed:volume | 31 | lld:pubmed |
| pubmed-article:8014976 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:8014976 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:8014976 | pubmed:pagination | 245-7 | lld:pubmed |
| pubmed-article:8014976 | pubmed:dateRevised | 2011-11-17 | lld:pubmed |
| pubmed-article:8014976 | pubmed:meshHeading | pubmed-meshheading:8014976-... | lld:pubmed |
| pubmed-article:8014976 | pubmed:meshHeading | pubmed-meshheading:8014976-... | lld:pubmed |
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| pubmed-article:8014976 | pubmed:meshHeading | pubmed-meshheading:8014976-... | lld:pubmed |
| pubmed-article:8014976 | pubmed:meshHeading | pubmed-meshheading:8014976-... | lld:pubmed |
| pubmed-article:8014976 | pubmed:meshHeading | pubmed-meshheading:8014976-... | lld:pubmed |
| pubmed-article:8014976 | pubmed:meshHeading | pubmed-meshheading:8014976-... | lld:pubmed |
| pubmed-article:8014976 | pubmed:year | 1994 | lld:pubmed |
| pubmed-article:8014976 | pubmed:articleTitle | X linked mental retardation with non-deletional alpha thalassaemia (ATR-X): further delineation of the phenotype. | lld:pubmed |
| pubmed-article:8014976 | pubmed:affiliation | Department of Genetics, Children's Hospital, Camperdown, Australia. | lld:pubmed |
| pubmed-article:8014976 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:8014976 | pubmed:publicationType | Case Reports | lld:pubmed |
