Two novel pathogenic variants in KIAA1109 causing...

Clinical Dysmorphology 2020 / 10 Vol. 29; Iss. 4

Two novel pathogenic variants in KIAA1109 causing Alkuraya-Kučinskas syndrome in two Czech Roma brothers

Meszarosova, Anna Uhrova, Lastuvkova, Jana, Rennerova, Ladislava, Hitka, Patrik, Cihlar, Filip, Seeman, Pavel, Safka Brozkova, Dana
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Volume:
29
Journal:
Clinical Dysmorphology
DOI:
10.1097/mcd.0000000000000335
Date:
October, 2020
File:
PDF, 414 KB
2020
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