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1962 | 1 |
2004 | 1 |
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An X-linked, recessively inherited syndrome characterized by grave mental deficiency, epilepsy, and endocrine disorder.
Acta Med Scand. 1962 Jan;171:13-21. doi: 10.1111/j.0954-6820.1962.tb04162.x.
Acta Med Scand. 1962.
PMID: 13871358
No abstract available.
1024C> T (R342X) is a recurrent PHF6 mutation also found in the original Börjeson-Forssman-Lehmann syndrome family.
Lower KM, Solders G, Bondeson ML, Nelson J, Brun A, Crawford J, Malm G, Börjeson M, Turner G, Partington M, Gécz J.
Lower KM, et al.
Eur J Hum Genet. 2004 Oct;12(10):787-9. doi: 10.1038/sj.ejhg.5201228.
Eur J Hum Genet. 2004.
PMID: 15241480
No abstract available.
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