Prenatal Diagnosis of Jeune Syndrome by Whole-Exome Sequencing in a Case With Mild Skeletal Changes
J Ultrasound Med
.
2020 Sep;39(9):1869-1871.
doi: 10.1002/jum.15266.
Epub 2020 Mar 10.
Authors
Laura Adamo
1
,
Eran Kassif
1
,
Jeffrey M Jacobson
2
,
Reuven Achiron
1
Affiliations
1
Prenatal Diagnostic Unit, Department of Obstetrics and Gynecology, Sheba Medical Center, Ramat Gan, Israel.
2
Department of Diagnostic Imaging, Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel.
PMID:
32154601
DOI:
10.1002/jum.15266
No abstract available
Publication types
Letter
MeSH terms
Ellis-Van Creveld Syndrome*
Exome Sequencing
Female
Humans
Musculoskeletal System*
Pregnancy
Prenatal Diagnosis
Supplementary concepts
Jeune syndrome