Van Maldergem syndrome: further characterisation and evidence for neuronal migration abnormalities a...
Van Maldergem syndrome: further characterisation and evidence for neuronal migration abnormalities and autosomal recessive inheritance
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Publisher
Basingstoke: Nature Publishing Group
Journal title
Language
English
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Publisher
Basingstoke: Nature Publishing Group
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Scope and Contents
Contents
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 and atresia of the external auditory meatus, inte...
Alternative Titles
Full title
Van Maldergem syndrome: further characterisation and evidence for neuronal migration abnormalities and autosomal recessive inheritance
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3449074
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3449074
Other Identifiers
ISSN
1018-4813
E-ISSN
1476-5438
DOI
10.1038/ejhg.2012.57
