Llwytho...

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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Schrander-Stumpel, C, Legius, E, Fryns, J P, Cassiman, J J
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 1990
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC1017259/
https://ncbi.nlm.nih.gov/pubmed/2277384
Tagiau: Ychwanegu Tag
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!