A novel de novo PDGFRB variant...

American Journal of Medical Genetics Part A 2019 / 04

A novel de novo PDGFRB variant in a child with severe cerebral malformations, intracerebral calcifications, and infantile myofibromatosis

Guimier, Anne, Gordon, Christopher T., Hully, Marie, Blauwblomme, Thomas, Minard‐Colin, Véronique, Bole‐Feysot, Christine, Nitschké, Patrick, Oufadem, Myriam, Boddaert, Nathalie, Sarnacki, Sabine, Ami
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Language:
english
Journal:
American Journal of Medical Genetics Part A
DOI:
10.1002/ajmg.a.61151
Date:
April, 2019
File:
PDF, 1.03 MB
english, 2019
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