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Whole exome sequencing aids the diagnosis of Simpson-Golabi-Behmel syndrome in two male fetuses.
- Source :
-
The Journal of international medical research [J Int Med Res] 2020 Jan; Vol. 48 (1), pp. 300060519859752. Date of Electronic Publication: 2019 Jul 15. - Publication Year :
- 2020
- Subjects :
- Adult
Base Sequence
Family
Female
Fetus abnormalities
Humans
Male
Pedigree
Arrhythmias, Cardiac diagnosis
Arrhythmias, Cardiac genetics
Fetus pathology
Genetic Diseases, X-Linked diagnosis
Genetic Diseases, X-Linked genetics
Gigantism diagnosis
Gigantism genetics
Heart Defects, Congenital diagnosis
Heart Defects, Congenital genetics
Intellectual Disability diagnosis
Intellectual Disability genetics
Exome Sequencing
Subjects
Details
- Language :
- English
- ISSN :
- 1473-2300
- Volume :
- 48
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- The Journal of international medical research
- Publication Type :
- Academic Journal
- Accession number :
- 31304847
- Full Text :
- https://doi.org/10.1177/0300060519859752