Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion

The 22q13.3 deletion causes a neurodevelopmental syndrome, also known as Phelan-McDermid syndrome (MIM #606232), characterized by developmental delay and severe delay or absence of expressive speech. Two patients with hemizygous chromosome 22q13.3 telomeric deletion were referred to us when brain-im...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Aldinger, Kimberly A., Kogan, Jillene, Kimonis, Virginia, Fernandez, Bridget, Horn, Denise, Klopocki, Eva, Chung, Brian, Toutain, Annick, Weksberg, Rosanna, Millen, Kathleen J., Barkovich, A. James, Dobyns, William B.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 2012
Pynciau:
Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC3733662/
https://ncbi.nlm.nih.gov/pubmed/23225497
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.35700
Tagiau: Ychwanegu Tag
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!

Eitemau Tebyg