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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Detalles Bibliográficos
Autores principales: Hadzsiev, Kinga, Komlosi, Katalin, Czako, Marta, Duga, Balazs, Szalai, Renata, Szabo, Andras, Postyeni, Etelka, Szabo, Titanilla, Kosztolanyi, Gyorgy, Melegh, Bela
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4766673/
https://www.ncbi.nlm.nih.gov/pubmed/26918030
http://dx.doi.org/10.1186/s13039-016-0231-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4766673/
https://www.ncbi.nlm.nih.gov/pubmed/26918030
http://dx.doi.org/10.1186/s13039-016-0231-2

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