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...

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Dades bibliogràfiques
Publicat a:Mol Cytogenet
Autors principals: Hadzsiev, Kinga, Komlosi, Katalin, Czako, Marta, Duga, Balazs, Szalai, Renata, Szabo, Andras, Postyeni, Etelka, Szabo, Titanilla, Kosztolanyi, Gyorgy, Melegh, Bela
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2016
Matèries:
Case Report
Accés en línia: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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