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A new X linked mental retardation (XLMR) syndrome with short stature, small testes, muscle wasting, and tremor localises to Xq24-q25

METHODS—A large family is described in which mental retardation segregates as an X linked trait. Six affected males in three generations were studied by linkage and clinical examination.
RESULTS—Characteristic clinical features include short stature, prominent lower lip, small testes, muscle wasting...

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Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς: Cabezas, D., Slaugh, R., Abidi, F., Arena, J, Stevenson, R., Schwartz, C., Lubs, H.
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: BMJ Group 2000
Θέματα:
Διαθέσιμο Online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1734699/
https://ncbi.nlm.nih.gov/pubmed/10978355
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.37.9.663
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