Hyperosmia, ectrodactyly, mild intellectual disability, and other defects in a male patient with an X-linked partial microduplication and overexpression of the KAL1 gene

• Autorzy: Sowinska-Seidler A. , Piwecka M. , Olech E. , Socha M. , Latos-Bielenska A. , Jamsheer A.
• Języki publikacji: EN

Abstrakty

EN

• Wydawca: -
• Czasopismo: Journal of Applied Genetics
• Rocznik: 2015
• Tom: 56
• Numer: 2
• Opis fizyczny: p.177-184,fig.,ref.

Twórcy

autor

Sowinska-Seidler A.

• Department of Medical Genetics, Poznan University of Medical Sciences, Rokietnicka 8 Street, 60-806 Poznan, Poland

autor

Piwecka M.

• Institute of Bioorganic Chemistry, Polish Academy of Sciences, Noskowskiego 12/14 Street, 61-704 Poznan, Poland

autor

Olech E.

• Department of Medical Genetics, Poznan University of Medical Sciences, Rokietnicka 8 Street, 60-806 Poznan, Poland

autor

Socha M.

• Department of Medical Genetics, Poznan University of Medical Sciences, Rokietnicka 8 Street, 60-806 Poznan, Poland

autor

Latos-Bielenska A.

• Department of Medical Genetics, Poznan University of Medical Sciences, Rokietnicka 8 Street, 60-806 Poznan, Poland
• NZOZ Center for Medical Genetics GENESIS, 4 Grudzieniec Street, 60-601 Poznan, Poland

autor

Jamsheer A.

• Department of Medical Genetics, Poznan University of Medical Sciences, Rokietnicka 8 Street, 60-806 Poznan, Poland

Identyfikatory

DOI

10.1007/s13353-014-0252-7