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Paper Details

Expansion of B4GALT7 linkeropathy phenotype to include perinatal lethal skeletal dysplasia.
Eur J Hum Genet
8
2019
Arg270Cys, Arg270Cys), B4GALT7, CHO pgsB, CHO pgsB-618 cells, Gln133Arg, LRS, Larsen of Reunion Island syndrome, NM_007255, NM_007255.3: c.808C, absent thumbs, autosomal recessive conditions, bell-shaped, c.398A, cleft palate, cystic hygroma, hyperextensible skin, joint hypermobility, linkeropathies, p, p., p.(Arg270Cys), p.(Arg270Cys) variants, p.(Gln133Arg), perinatal death, short limbs, short stature, skeletal dysplasia, tetrasaccharide
Author NameAffiliation
Daniel C KoboldtInstitute for Genomic Medicine at Nationwide Children's Hospital
Daniel C KoboldtThe Ohio State University
Benjamin J KellyInstitute for Genomic Medicine at Nationwide Children's Hospital
Benjamin J KellyInstitute for Genomic Medicine at Nationwide Children's Hospital
Peter WhiteInstitute for Genomic Medicine at Nationwide Children's Hospital
Peter WhiteThe Ohio State University
Richard K WilsonInstitute for Genomic Medicine at Nationwide Children's Hospital
Richard K WilsonThe Ohio State University
Richard K WilsonInstitute for Genomic Medicine at Nationwide Children's Hospital
Richard K WilsonThe Ohio State University
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