Interstitial Deletions at 6q14.1q15 Associated with Developmental Delay and a Marfanoid Phenotype

There are a number of reports of interstitial deletions of the long arm of chromosome 6 that have developmental delay and obesity suggesting that this is a distinct phenotype almost like Prader-Willi syndrome. Here we report a patient with a similar deletion but a strikingly different phenotype, one...

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Hlavní autoři: Lowry, R.B., Chernos, J.E., Connelly, M.S., Wyse, J.P.H.
Médium: Artigo
Jazyk:Inglês
Vydáno: S. Karger AG 2013
Témata:
Case Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3776401/
https://ncbi.nlm.nih.gov/pubmed/24167463
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000354038
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