Alpha thalassaemia-mental retardation, X linked
Author:
Publisher
Springer Science and Business Media LLC
Subject
Pharmacology (medical),Genetics(clinical),General Medicine
Link
http://link.springer.com/content/pdf/10.1186/1750-1172-1-15.pdf
Reference41 articles.
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2. Guerrini R, Shanahan JL, Carrozzo R, Bonanni P, Higgs DR, Gibbons RJ: A nonsense mutation of the ATRX gene causing mild mental retardation and epilepsy. Ann Neurol. 2000, 47: 117-121. 10.1002/1531-8249(200001)47:1<117::AID-ANA20>3.0.CO;2-A.
3. Donnai D, Clayton-Smith J, Gibbons RJ, Higgs DR: The non-deletion alpha thalassaemia/mental retardation syndrome: further support for X linkage. J Med Genet. 1991, 28: 742-745.
4. Holmes LB, Gang DL: Brief clinical report: an X-linked mental retardation syndrome with craniofacial abnormalities, microcephaly and club foot. Am J Med Genet. 1984, 17: 375-382. 10.1002/ajmg.1320170131.
5. Stevenson RE, Abidi F, Schwartz CE, Lubs HA, Holmes LB: Holmes-Gang syndrome is allelic with XLMR-hypotonic face syndrome. Am J Med Genet. 2000, 94: 383-385. 10.1002/1096-8628(20001023)94:5<383::AID-AJMG7>3.0.CO;2-7.
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