Phenotypic Overlap of Roberts and Baller-Gerold Syndromes in Two Patients With Craniosynostosis, Limb Reductions, and
Baller-Gerold syndrome
ESCO2
RECQL4
Roberts syndrome
differential diagnosis
genetic counseling
patient management
Journal
Frontiers in pediatrics
ISSN: 2296-2360
Titre abrégé: Front Pediatr
Pays: Switzerland
ID NLM: 101615492
Informations de publication
Date de publication:
2019
2019
Historique:
received:
22
11
2018
accepted:
08
05
2019
entrez:
14
6
2019
pubmed:
14
6
2019
medline:
14
6
2019
Statut:
epublish
Résumé
Baller-Gerold (BGS, MIM#218600) and Roberts (RBS, MIM#268300) syndromes are rare autosomal recessive disorders caused, respectively, by biallelic alterations in
Identifiants
pubmed: 31192177
doi: 10.3389/fped.2019.00210
pmc: PMC6546804
doi:
Types de publication
Case Reports
Langues
eng
Pagination
210Références
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