Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations.
about
In frame exon skipping in UBE3B is associated with developmental disorders and increased mortality in cattle.Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.HECT-type E3 ubiquitin ligases in nerve cell development and synapse physiology.UBE3B Is a Calmodulin-regulated, Mitochondrion-associated E3 Ubiquitin Ligase.Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails.Kaufman oculocerebrofacial syndrome: Novel UBE3B mutations and clinical features in four unrelated patients.DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome.
P2860
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P2860
Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations.
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article científic
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article scientifique
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articolo scientifico
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artigo científico
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artigo científico
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artigo científico
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Expanding the clinical and mut ...... ith biallelic UBE3B mutations.
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label
Expanding the clinical and mut ...... ith biallelic UBE3B mutations.
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Expanding the clinical and mut ...... ith biallelic UBE3B mutations.
@en
P2093
P2860
P50
P1433
P1476
Expanding the clinical and mut ...... ith biallelic UBE3B mutations.
@en
P2093
Dorothy K Grange
Guntram Borck
Heather Feenstra
Julie Désir
Kelly D Farwell Gonzalez
Megan Mortenson
Miriam S Reuter
Nils Rahner
Patrick Koty
Rüstem Yilmaz
P2860
P2888
P304
P356
10.1007/S00439-014-1436-2
P50
P577
2014-03-11T00:00:00Z
P5875
P6179
1053061730