Exome Sequencing Reveals Biallelic Mutations in
diagnostic odyssey
massive sequencing
medical genomics
molecular genetics
osseous dysplasias
rare diseases
Journal
Diagnostics (Basel, Switzerland)
ISSN: 2075-4418
Titre abrégé: Diagnostics (Basel)
Pays: Switzerland
ID NLM: 101658402
Informations de publication
Date de publication:
31 Jan 2024
31 Jan 2024
Historique:
received:
23
11
2023
revised:
28
12
2023
accepted:
03
01
2024
medline:
10
2
2024
pubmed:
10
2
2024
entrez:
10
2
2024
Statut:
epublish
Résumé
The Kondo-Fu type of spondyloepiphyseal dysplasia (SEDKF) is a rare skeletal dysplasia caused by homozygous or compound heterozygous mutations in the
Identifiants
pubmed: 38337829
pii: diagnostics14030313
doi: 10.3390/diagnostics14030313
pii:
doi:
Types de publication
Case Reports
Langues
eng
Subventions
Organisme : Inter-American Development Bank
ID : ATN/KK-L4584-"Fortalecimiento de las capacidades técnicas y humanas para las exportaciones de servicios genómicos"
Organisme : Agencia Nacional de Investigación e Innovación
ID : FSS_X_2022_1_173209