Primary microcephaly case from the Karachay-Cherkess Republic poses an additional support for microcephaly and Seckel syndrome spectrum disorders

• Main Authors: Andrey V. Marakhonov (Author), Fedor A. Konovalov (Author), Amin Kh. Makaov (Author), Tatyana A. Vasilyeva (Author), Vitaly V. Kadyshev (Author), Varvara A. Galkina (Author), Elena L. Dadali (Author), Sergey I. Kutsev (Author), Rena A. Zinchenko (Author)
• Format: Knjiga
• Izdano: BMC, 2018-02-01T00:00:00Z.
• Teme: article
• Online dostop: Connect to this object online.

Abstract Background Primary microcephaly represents an example of clinically and genetically heterogeneous condition. Here we describe a case of primary microcephaly from the Karachay-Cherkess Republic, which was initially diagnosed with Seckel syndrome. Case presentation Clinical exome sequencing o...