Detection of submicroscopic deletions in band 17p13 in patients with the Miller-Dieker syndrome

The Miller-Dieker syndrome (MDS), a syndrome with lissencephaly, distinctive craniofacial features, growth impairment, and profound developmental failure, has been associated with a deletion of the distal part of chromosome band 17p13. A minority of patients with the syndrome do not have a deletion...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Schwartz, Charles E., Johnson, John P., Holycross, Bridget, Mandeville, Tracy M., Sears, Tena S., Graul, Elizabeth A., Carey, John C., Schroer, Richard J., Phelan, Mary C., Szollar, Judith, Flannery, David B., Stevenson, Roger E.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 1988
Pynciau:
Original Articles
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC1715525/
https://ncbi.nlm.nih.gov/pubmed/2903661
Tagiau: Ychwanegu Tag
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!

Eitemau Tebyg