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MASA syndrome: new clinical features and linkage analysis using DNA probes.

We describe a two generation family in which two males have the X linked recessive MASA syndrome (mental retardation, aphasia, shuffling gait, and adducted thumbs). A third male in this family died at the age of 15 years from congenital hydrocephalus. In the present family cerebral abnormalities are...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Schrander-Stumpel, C, Legius, E, Fryns, J P, Cassiman, J J
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 1990
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC1017259/
https://ncbi.nlm.nih.gov/pubmed/2277384
Etiketak: Etiketa erantsi
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