Clinical insights and molecular study of three foetuses with DYNC2H1 gene mutation causing short rib thoracic dystrophy

Clin Genet. 2021 Jun;99(6):853-854. doi: 10.1111/cge.13953. Epub 2021 Mar 11.

Authors

Seema Thakur¹, Rachna Gupta², Deepak Bansal³, Chanchal Singh¹, Divya Agarwal⁴, Kamal Kant Saxena⁵

Affiliations

¹ Department of Genetic and Fetal Medicine, Rainbow Children Hospital, New Delhi, India.
² Department of Fetal Medicine, Sunehri Devi Hospital, Sonepat, Indraprastha Apollo Hospital, New Delhi, India.
³ Department of Fetal Medicine, Focus Scan and Xray Center, Jamalpur, Ludhiana, India.
⁴ Department of Medical Genetics, Max Hospital, Gurgaon, India.
⁵ Department of Radiology, Sir Ganga Ram Hospital, New Delhi, India.

PMID: 33694158
DOI: 10.1111/cge.13953

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Cytoplasmic Dyneins / genetics*
Fetus / abnormalities*
Humans
Mutation / genetics*
Ribs / abnormalities*
Short Rib-Polydactyly Syndrome / genetics*

Substances

DYNC2H1 protein, human
Cytoplasmic Dyneins