Intrafamilial variability and neurological manifestations in two siblings with carbohydrate sulfotransferase 3-related skeletal dysplasia
Clin Dysmorphol
.
2023 Jan 1;32(1):14-17.
doi: 10.1097/MCD.0000000000000432.
Epub 2022 Sep 12.
Authors
Jehú Rivera-Vargas
1
,
Andrea Superti-Furga
2
,
Luisa Bonafé
2
,
Christian Peña-Padilla
1
,
Rocío Carolina Cortés-Pastrana
1
,
Lucina Bobadilla-Morales
3
,
Alfredo Corona-Rivera
3
,
Jorge Román Corona-Rivera
1
3
Affiliations
1
Service of Genetics and Cytogenetic Unit, 'Dr. Juan I. Menchaca' Civil Hospital of Guadalajara, Guadalajara, México.
2
Department of Pediatrics, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland.
3
Dr. Enrique Corona Rivera Institute of Human Genetics, Health Sciences University Centre, University of Guadalajara, Guadalajara, Mexico.
PMID:
36503918
DOI:
10.1097/MCD.0000000000000432
No abstract available
MeSH terms
Carbohydrate Sulfotransferases
Humans
Osteochondrodysplasias*
Siblings
Supplementary concepts
Spondyloepiphyseal dysplasia, Omani type