2020 / 03

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DOI: 10.24075/brsmu.2020.033

CLINICAL CASE

Microcephaly-capillary malformation syndrome

Shchagina OA, Semenova NA, Bessonova LA, Larshina EA, Beskorovainiy NS, Zakharova EYu, Ryzhkova OP, Poliakov AV
About authors

Bochkov Research Center for Medical Genetics, Moscow, Russia

Correspondence should be addressed: Olga A. Shchagina
Moskvorechye, 1, Moscow, 115522; ur.baland@anigahcs, ur.liam@o_anigahcs

About paper

Compliance with ethical standards: the study was approved by the Ethics Committee of the Research Centre for Medical Genetics (protocol № 5/8 dated November 12, 2018). The informed consent to molecular genetic testing, and anonymity-preserving clinical and molecular genetics data publishing (including photos and videos) was submitted by all participants or their legal representatives.

Author contribution: Shchagina OA — study design, molecular genetic analysis, frequency estimation, statistical analysis; Semenova NA, Bessonova LA — clinical examination and genetic counseling of the patients’ families; Larshina EA — biochemical assays, GALT gene analysis; Beskorovainiy NS — exome sequencing data processing; Zakharova EYu — biochemical analysis, prevalence calculation; Ryzhkova OP — pathogenicity analysis of genetic variants, exome sequencing; Poliakov AV — selection of primers for molecular genetic analysis.

Received: 2020-05-18 Accepted: 2020-06-03 Published online: 2020-06-19
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