نتایج جستجو برای: mowat syndrome

تعداد نتایج: 621961  

Journal: :Zootaxa 2014
Jian-Kun Long Lin Yang Xiang-Sheng Chen

Three new species of the planthopper genus Magadha, M. basimaculata sp. nov., M. densimaculosa sp. nov. and M. intumescentia sp. nov., are described and illustrated from China. The male of M. taibaishanensis Wang, 1989 is described for the first time. Illustrations of M. pinnata Chen, Yang & Wilson, 1989 and M. redunca Chen, Yang & Wilson, 1989 and a key to all species of the genus are given. 

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Journal: :Orphanet Journal of Rare Diseases 2018

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Journal: :Genetics in Medicine 2016

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Journal: :Kidney International 1994

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Journal: :Epilepsia 2013

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Journal: :Clinical Case Reports 2016

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Journal: :Taiwanese Journal of Obstetrics and Gynecology 2011

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Journal: :Journal of Applied Genetics 2021

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Journal: :American Journal of Medical Genetics Part A 2018

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2014
Linda Pons Sophie Dupuis-Girod Marie-Pierre Cordier Patrick Edery Massimiliano Rossi

Primary asplenia is a rare condition with poorly known etiology. Mowat-Wilson syndrome (MWS) is characterized by typical facial dysmorphisms, intellectual disability, microcephaly, epilepsy and the possible presence of internal organ malformations. It is caused by heterozygous mutations or deletions in the ZEB2 gene. Nearly 180 patients have been reported to date, but only one with asplenia. We...

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