文献
J-GLOBAL ID:202202239270458768
整理番号:22A0952042
新規二重対立遺伝子IMPAD1変異体に起因する関節転位,GPAPP型を伴う軟骨異形成症の胎児症状【JST・京大機械翻訳】
Fetal presentation of chondrodysplasia with joint dislocations, GPAPP type, caused by novel biallelic IMPAD1 variants
著者 (10件):
Venkatapuram Vijaya Sree
(Department of Medical Genetics, Nizam’s Institute of Medical Sciences, Hyderabad, India)
,
Venkatapuram Vijaya Sree
(Division of Diagnostics, Centre for DNA Fingerprinting & Diagnostics, Hyderabad, India)
,
Aggarwal Shagun
(Department of Medical Genetics, Nizam’s Institute of Medical Sciences, Hyderabad, India)
,
Aggarwal Shagun
(Division of Diagnostics, Centre for DNA Fingerprinting & Diagnostics, Hyderabad, India)
,
Kulkarni Aditya Deepak
(Department of Pathology, Apollo Hospitals, Hyderabad, India)
,
Vineeth Venugopal Satidevi
(Division of Diagnostics, Centre for DNA Fingerprinting & Diagnostics, Hyderabad, India)
,
Bhikaji Dalal Ashwin
(Division of Diagnostics, Centre for DNA Fingerprinting & Diagnostics, Hyderabad, India)
,
Bhat Venkatraman
(Department of Radiology, Mazumdar Shaw Medical Center, Narayana Hrudayalaya Hospitals, Bangalore, India)
,
Kiran Lavanya
(Department of Obstetrics and Gynecology, Mazumdar Shaw Medical Center, Narayana Hrudayalaya Hospitals, Bangalore, India)
,
Patil Siddaramappa Jagdish
(Division of Medical Genetics, Mazumdar Shaw Medical Center, Narayana Hrudayalaya Hospitals, Bangalore, India)
資料名:
American Journal of Medical Genetics. Part A
(American Journal of Medical Genetics. Part A)
巻:
188
号:
4
ページ:
1287-1292
発行年:
2022年
JST資料番号:
E0725C
ISSN:
1552-4825
資料種別:
逐次刊行物 (A)
記事区分:
原著論文
発行国:
アメリカ合衆国 (USA)
言語:
英語 (EN)