Czech family confirms the new 1p36.13-1p36.12 microdeletion syndrome

Pavel Seeman,Vlasta Cejnova,Sarka Cerna,Ladislava Rennerova,Marie Trkova, Josef Kofer,Jana Lastuvkova

CLINICAL GENETICS（2022）

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摘要

Confirmation of the newly described 1p36.13-1p36.12 microdeletion syndrome by finding of a 2,2 Mb deletion in the critical region in a Czech two generation family with a very similar phenotype, but in addition also polyneuropathy of lower limbs.

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