Intrafamilial variability and neurological manifestations in two siblings with carbohydrate sulfotransferase 3-related skeletal dysplasia.

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Serval ID
serval:BIB_49A7C3F7E927
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
UNIL/CHUV
Title
Intrafamilial variability and neurological manifestations in two siblings with carbohydrate sulfotransferase 3-related skeletal dysplasia.
Journal
Clinical dysmorphology
Author(s)
Rivera-Vargas J., Superti-Furga A., Bonafé L., Peña-Padilla C., Cortés-Pastrana R.C., Bobadilla-Morales L., Corona-Rivera A., Corona-Rivera J.R.
ISSN
1473-5717 (Electronic)
ISSN-L
0962-8827
Publication state
Published
Issued date
01/01/2023
Peer-reviewed
Oui
Volume
32
Number
1
Pages
14-17
Language
english
Notes
Publication types: Journal Article
Publication Status: ppublish
Keywords
Humans, Osteochondrodysplasias, Siblings
OAI-PMH
oai:serval.unil.ch:BIB_49A7C3F7E927
DOI
10.1097/MCD.0000000000000432
Pubmed
36503918
Web of science
000911838900003
Create date
19/12/2022 10:32
Last modification date
21/04/2023 5:53
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