Phenotypic variability in a Hungarian patient with the 4q21 microdeletion syndrome

BACKGROUND: Interstitial deletions of 4q21 (MIM 613509) have already been reported in more than a dozen patients with deletions ranging from 2 to 15.1 Mb delineating a common phenotype including marked growth restriction, hypotonia, severe developmental delay with absent or delayed speech and distin...

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Vydáno v:Mol Cytogenet
Hlavní autoři: Komlósi, Katalin, Duga, Balázs, Hadzsiev, Kinga, Czakó, Márta, Kosztolányi, György, Fogarasi, András, Melegh, Béla
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2015
Témata:
Case Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4359765/
https://ncbi.nlm.nih.gov/pubmed/25774221
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-015-0118-7
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