Familial
7‐dehydrocholesterol
DHCR7
Smith‐Lemli‐Opitz syndrome
holoprosencephaly
Journal
JIMD reports
ISSN: 2192-8304
Titre abrégé: JIMD Rep
Pays: United States
ID NLM: 101568557
Informations de publication
Date de publication:
Nov 2020
Nov 2020
Historique:
received:
26
03
2020
revised:
15
07
2020
accepted:
17
07
2020
entrez:
18
11
2020
pubmed:
19
11
2020
medline:
19
11
2020
Statut:
epublish
Résumé
Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive metabolic disorder caused by variants in the
Identifiants
pubmed: 33204589
doi: 10.1002/jmd2.12155
pii: JMD212155
pmc: PMC7653247
doi:
Types de publication
Case Reports
Langues
eng
Pagination
3-8Informations de copyright
© 2020 The Authors. JIMD Reports published by John Wiley & Sons Ltd on behalf of SSIEM.
Déclaration de conflit d'intérêts
The authors declare no potential conflict of interest.
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