H. Vega

发表

ATP6V1H Deficiency Impairs Bone Development through Activation of MMP9 and MMP13

V. Maduro, C. Toro, C. Boerkoel, 2017, PLoS genetics.

Glycosylation, hypogammaglobulinemia, and resistance to viral infections.

M. Hegde, T. Chun, J. Justement, 2014, The New England journal of medicine.

Synonyms: Roberts-SC Phocomelia Syndrome, Pseudothalidomide Syndrome, Roberts-SC (Pseudothalidomide), SC-Phocomelia Syndrome

E. Jabs, R. Pagon, Ardinger Hh, 2014 .

Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith-Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity.

K. F. Fajardo, J. Snyder, D. Kerr, 2014, Molecular genetics and metabolism.

A novel common missense mutation G301C in the N-acetylgalactosamine-6-sulfate sulfatase gene in mucopolysaccharidosis IVA

T. Yasunaga, N. Kondo, Z. Kato, 1997, Human Genetics.

Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion

E. Jabs, Q. Waisfisz, H. Kayserili, 2005, Nature Genetics.

The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity.

Francesca Forzano, Hui Zou, Susan Chang, 2008, Human molecular genetics.

Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome

R. Hennekam, E. Jabs, J. Hurst, 2009, Journal of Medical Genetics.

Glycosylation, hypogammaglobulinemia, and resistance to viral infections.

M. Hegde, T. Chun, J. Justement, 2014, The New England journal of medicine.