From Wolf-Hirschhorn syndrome to NSD2 haploinsufficiency: a shifting paradigm through the description of a new case and a review of the literature.

From Wolf-Hirschhorn syndrome to NSD2 haploinsufficiency: a shifting paradigm through the description of a new case and a review of the literature. — المؤلف: Wiel, Luisa Cortellazzo — Italian journal of pediatrics 20220517

المؤلف
Wiel, Luisa Cortellazzo
النشر
Italian journal of pediatrics 20220517
الوصف
72 p.
الموضوعات
Chromosome Deletion؛ Chromosomes, Human, Pair 4؛ Haploinsufficiency؛ Humans؛ Intellectual Disability؛ Male؛ Phenotype؛ Seizures