X linked severe mental retardation, craniofacial dysmorphology, epilepsy, ophthalmoplegia, and cerebellar atrophy in a large South African kindred is localised to Xq24-q27

To date over 150 X linked mental retardation (XLMR) conditions have been documented. We describe a five generation South African family with XLMR, comprising 16 affected males and 10 carrier females. The clinical features common to the 16 males included profound mental retardation (100%), mutism des...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Päätekijät: Christianson, A., Stevenson, R., van der Meyden, C H, Pelser, J., Theron, F., van Rensburg, P. L, Chandler, M., Schwartz, C.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: BMJ Group 1999
Aiheet:
Original Articles
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC1734236/
https://ncbi.nlm.nih.gov/pubmed/10528855
Tagit: Lisää tagi
Ei tageja, Lisää ensimmäinen tagi!

Samankaltaisia teoksia