CUL4B, cullin 4B, 8450

N. diseases: 162; N. variants: 17
Disease: Congenital pes cavus ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0728829
Disease: Congenital pes cavus
Congenital pes cavus 		0.010 GeneticVariation disease BEFREE Here, using oligoarray-based comparative genomic hybridization (array CGH), we identified a de novo deletion of the CUL4B gene in a boy with syndromic mental retardation, minor facial anomalies, short stature, delayed puberty, hypogonadism, relative macrocephaly, gait ataxia, and pes cavus, all manifestations described previously in patients with CUL4B point mutations. 20014135 2010