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...

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Bibliografiske detaljer
Udgivet i:J Med Genet
Main Authors: Schrander-Stumpel, C, Legius, E, Fryns, J P, Cassiman, J J
Format: Artigo
Sprog:Inglês
Udgivet: BMJ Publishing Group 1990
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1017259/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/2277384/
https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.27.11.688
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