MOLECULAR BASIS OF CHROMOSOME 22q11.2 HAPLOINSUFFICIENCY AND ITS RELATIONSHIP TO THE PHENOTYPIC OUTCOME
- 2 Anni 1998/2000
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Pubblicazioni Scientifiche
- AMERICAN JOURNAL OF HUMAN GENETICS
Mutations of UFD1L are not responsible for the majority of cases of DiGeorge syndrome -: Velocardiofacial syndrome without deletions within chromosome 22q11
- EUROPEAN JOURNAL OF HUMAN GENETICS
Atypical deletions suggest five 22q11.2 critical regions related to the DiGeorge/velo-cardio-facial syndrome
- MOLECULAR MEDICINE TODAY
Individual haploinsufficient loci and the complex phenotype of DiGeorge syndrome
- TRENDS IN GENETICS
UFD1L and CDC45L - a role in DiGeorge syndrome and related phenotypes?
