Kleefstra syndrome in Hungarian patients: additional symptoms besides the classic phenotype

BACKGROUND: Kleefstra syndrome is a rare genetic disorder, with core phenotypic features encompassing developmental delay/intellectual disability, characteristic facial features – brachy(micro)cephaly, unusual shaped eyebrows, flat face with hypertelorism, short nose with anteverted nostrils, thicke...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Mol Cytogenet
Päätekijät: Hadzsiev, Kinga, Komlosi, Katalin, Czako, Marta, Duga, Balazs, Szalai, Renata, Szabo, Andras, Postyeni, Etelka, Szabo, Titanilla, Kosztolanyi, Gyorgy, Melegh, Bela
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: BioMed Central 2016
Aiheet:
Case Report
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC4766673/
https://ncbi.nlm.nih.gov/pubmed/26918030
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-016-0231-2
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