A Newly Recognized Syndrome With Characteristic Facial Features, Skeletal Dysplasia, and Developmental Delay

We describe a series of seven male patients from six different families with skeletal dysplasia, characteristic facial features, and developmental delay. Skeletal findings include patellar dislocation, short tubular bones, mild metaphyseal changes, brachymetacarpalia with stub thumbs, short femoral...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Baratela, Wagner A.R., Bober, Michael B., Tiller, George E., Okenfuss, Ericka, Ditro, Colleen, Duker, Angela, Krakow, Deborah, Stabley, Deborah L., Sol-Church, Katia, Mackenzie, William, Lachman, Ralph, Scott, Charles I.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 2012
Pynciau:
Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC4164294/
https://ncbi.nlm.nih.gov/pubmed/22711505
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.35445
Tagiau: Ychwanegu Tag
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!

Eitemau Tebyg