نتایج جستجو برای: thanatophoric dysplasia

تعداد نتایج: 28626  

Journal: :Journal of Laboratory Physicians 2014

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Journal: :American Journal of Roentgenology 1984

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Journal: :Human Molecular Genetics 2003

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Journal: :International Journal of Research in Medical Sciences 2014

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1998

involves the fibroblast growth-factor receptor 3 gene. Blood 10:4062, 1997 9. Tavormina PL, Shiang R, Thompson LM, Zhu YZ, Wilkin DJ, Lachman RS, Wilcox WR, Rimoin DL, Cohn DH, Wasmuth JJ: Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3. Nat Genet 9:321, 1995 10. Caligaris-Cappio F, Bergui L, Gregoretti MG, Gaidano G, Gaboli M, Schena...

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Journal: :International Journal of Genetics and Genomics 2021

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Journal: :Ultrasound in Obstetrics and Gynecology 2007

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Journal: :Pathology 2023

Thanatophoric dysplasia (TD) is one the most common lethal skeletal with an incidence of in 20,000. It caused by de novo mutation fibroblast growth factor receptor 3 (FGFR3) which turn leads to reduced proliferation and maturation plate chondrocytes. Two subtypes have been described. Type I typically features short long bones bowed femurs, while type II manifests straighter femurs cloverleaf sk...

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Journal: :Endocrine Journal 2000

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Journal: :Journal of prenatal medicine 2008
Adekunle Y Abdulkadir Kabiru Isyaku Akintade Dare Sulaiman G Abdullahi Sule K Idris Abdulkadir M Tabari

OBJECTIVES Thanatophoric dysplasia (TD), the most common of the congenital lethal skeletal dysplasias occurs sporadically in 1/64,000-100,000 live births. To the best of our knowledge, the in utero attitudes and behaviours of such babies with serial ultrasound scans have not been previously described. We present the in utero third trimester sonographic behaviors of TD in a 22-year-old primigra...

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