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Article

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

BMC medical genomics - 13 Feb 2018

Marakhonov Andrey V, Konovalov Fedor A, Makaov Amin Kh, Vasilyeva Tatyana A, Kadyshev Vitaly V, Galkina Varvara A, Dadali Elena L, Kutsev Sergey I, Zinchenko Rena A

Abstract excerpt

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 of the proband revealed a novel homozygous single nucleotide deletion in ASPM gene, c.1386delC, resulting in preterm...

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Identifiers

PMID: 29504900
DOI: 10.1186/s12920-018-0326-1
PMCID: PMC5836840

Genes

ASPM

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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