Van Maldergem syndrome: further characterisation and evidence for neuronal migration abnormalities and autosomal recessive inheritance

We present six patients from five unrelated families with a condition originally described by Van Maldergem et al and provide follow-up studies of the original patient. The phenotype comprises a distinctive facial appearance that includes blepharophimosis, maxillary hypoplasia, telecanthus, microtia...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Mansour, Sahar, Swinkels, Marielle, Terhal, Paulien A, Wilson, Louise C, Rich, Philip, Van Maldergem, Lionel, Zwijnenburg, Petra JG, Hall, Christine M, Robertson, Stephen P, Newbury-Ecob, Ruth
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Nature Publishing Group 2012
Pynciau:
Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC3449074/
https://ncbi.nlm.nih.gov/pubmed/22473091
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2012.57
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