Fetal presentation of chondrodysplasia with joint dislocations, GPAPP type, caused by novel biallelic IMPAD1 variants.
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| Title: | Fetal presentation of chondrodysplasia with joint dislocations, GPAPP type, caused by novel biallelic IMPAD1 variants. |
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| Authors: | Venkatapuram VS; Department of Medical Genetics, Nizam's Institute of Medical Sciences, Hyderabad, India.; Division of Diagnostics, Centre for DNA Fingerprinting & Diagnostics, Hyderabad, India., Aggarwal S; Department of Medical Genetics, Nizam's Institute of Medical Sciences, Hyderabad, India.; Division of Diagnostics, Centre for DNA Fingerprinting & Diagnostics, Hyderabad, India., Kulkarni AD; Department of Pathology, Apollo Hospitals, Hyderabad, India., Vineeth VS; Division of Diagnostics, Centre for DNA Fingerprinting & Diagnostics, Hyderabad, India., Bhikaji Dalal A; Division of Diagnostics, Centre for DNA Fingerprinting & Diagnostics, Hyderabad, India., Bhat V; Department of Radiology, Mazumdar Shaw Medical Center, Narayana Hrudayalaya Hospitals, Bangalore, India., Kiran L; Department of Obstetrics and Gynecology, Mazumdar Shaw Medical Center, Narayana Hrudayalaya Hospitals, Bangalore, India., Patil SJ; Division of Medical Genetics, Mazumdar Shaw Medical Center, Narayana Hrudayalaya Hospitals, Bangalore, India. |
| Source: | American journal of medical genetics. Part A [Am J Med Genet A] 2022 Apr; Vol. 188 (4), pp. 1287-1292. Date of Electronic Publication: 2022 Jan 06. |
| Publication Type: | Case Reports; Research Support, Non-U.S. Gov't; Journal Article |
| Journal Info: | Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1552-4833 |
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| DOI: | 10.1002/ajmg.a.62622 |
