: We report the case of two siblings with incomplete Donnai-Barrow syndrome (DBS) phenotype carrying three LRP2 variants never associated before with DBS phenotype.
From pollakiuria to Donnai-Barrow syndrome diagnosis in pediatric age
Pecoraro, Luca;Pietrobelli, Angelo;Piacentini, GiorgioMembro del Collaboration Group
;
2023-01-01
Abstract
: We report the case of two siblings with incomplete Donnai-Barrow syndrome (DBS) phenotype carrying three LRP2 variants never associated before with DBS phenotype.
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