scholarly journals Metatropic Dysplasia of Nonlethal Variant in a Chinese Child – A Case Report

2019 ◽  
Vol 12 (1) ◽  
pp. 333-336
Author(s):  
Michele A Tchio Tchoumba ◽  
Yan Bai ◽  
Runming Jin ◽  
Xianying Yu ◽  
Musa Male
Keyword(s):  
Case Report ◽  
Chinese Child ◽  
Metatropic Dysplasia

Lethal metatropic dysplasia: a case report

Pathology ◽  
2007 ◽  
Vol 39 (1) ◽  
pp. 177-181 ◽  
Author(s):  
Beena Kumar ◽  
Peter Kannu ◽  
Ravi Savarirayan ◽  
Yuen Chan
Keyword(s):  
Case Report ◽  
Metatropic Dysplasia

Mosaic ring chromosome 18 in a Chinese child with epilepsy: a case report and review of the literature

2021 ◽  
Author(s):  
Jing Wang ◽  
Ling Xiao ◽  
Junling Wang ◽  
Zijin Ding ◽  
Jie Ni ◽  
...  
Keyword(s):  
Case Report ◽  
Ring Chromosome ◽  
Chinese Child ◽  
Review Of The Literature ◽  
Chromosome 18 ◽  
Ring Chromosome 18

scholarly journals Novel compound heterozygous ATP6V1B1 mutations in a Chinese child patient with primary distal renal tubular acidosis: a case report

2018 ◽  
Vol 19 (1) ◽  
Author(s):  
Xiangzhong Zhao ◽  
Jingru Lu ◽  
Yanxia Gao ◽  
Xiaoling Wang ◽  
Yanhua Lang ◽  
...  
Keyword(s):  
Case Report ◽  
Renal Tubular Acidosis ◽  
Distal Renal Tubular Acidosis ◽  
Chinese Child ◽  
Compound Heterozygous ◽  
Child Patient ◽  
Renal Tubular

Case report: A Chinese child with Andersen–Tawil syndrome due to a de novo KCNJ2 mutation

2015 ◽  
Vol 352 (1-2) ◽  
pp. 105-106 ◽  
Author(s):  
Xiao-li Liu ◽  
Xiao-jun Huang ◽  
Xing-hua Luan ◽  
Hai-yan Zhou ◽  
Tian Wang ◽  
...  
Keyword(s):  
Case Report ◽  
De Novo ◽  
Chinese Child

scholarly journals Metatropic dysplasia in four-year-old boy – physiotherapy and orthopaedic care problems – case report

2012 ◽  
Vol 14 (3) ◽  
pp. 289-302
Author(s):  
Jacek Kleszczyński ◽  
Michał Błoch ◽  
Katarzyna Hofbauer ◽  
Piotr Dominiak
Keyword(s):  
Case Report ◽  
Orthopaedic Care ◽  
Metatropic Dysplasia ◽  
Care Problems

scholarly journals Diagnosis and Treatment of Pythium Insidiosum Corneal Ulcer in a Chinese Child: A Case Report and Literature Review

2016 ◽  
Vol 17 ◽  
pp. 982-988 ◽  
Author(s):  
Hong He ◽  
Hongshan Liu ◽  
Xiaolian Chen ◽  
Jiaochan Wu ◽  
Miao He ◽  
...  
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Corneal Ulcer ◽  
Chinese Child ◽  
Diagnosis And Treatment ◽  
Pythium Insidiosum

scholarly journals Thrombocytosis in an Infant with a TRPV4 Mutation: A Case Report

2020 ◽  
Author(s):  
Christopher S. Thom ◽  
Erik Brandsma ◽  
Michele P. Lambert
Keyword(s):  
Platelet Count ◽  
Case Report ◽  
Skeletal Dysplasia ◽  
Transient Receptor Potential ◽  
Autosomal Dominant ◽  
Receptor Potential ◽  
Channel Gene ◽  
Perinatal Lethality ◽  
Metatropic Dysplasia ◽  
Transient Receptor

Mutations in the calcium channel gene Transient Receptor Potential cation channel subfamily V member 4 (TRPV4) cause autosomal dominant skeletal dysplasia, with phenotypes ranging from mild to perinatal lethality. A recent report detailed murine thrombocytosis in the absence of functional TRPV4, but no prior reports have described platelet count abnormalities in the context of human TRPV4 disease. Here, we report a case of prolonged thrombocytosis in the context of TRPV4-associated metatropic dysplasia that was lethal in the infantile period.

Metatropic Dysplasia: A Case Report

1995 ◽  
Vol 12 (02) ◽  
pp. 129-131 ◽  
Author(s):  
A. Gil ◽  
E. Molina ◽  
M. Ayucar ◽  
C. Marin ◽  
G. Leza ◽  
...  
Keyword(s):  
Case Report ◽  
Metatropic Dysplasia

scholarly journals Diagnosis of cobalamin C deficiency with renal abnormality from onset in a Chinese child by next generation sequencing: A case report

2017 ◽  
Vol 14 (4) ◽  
pp. 3637-3643 ◽  
Author(s):  
Qiuxia Chen ◽  
Huaying Bao ◽  
Hongmei Wu ◽  
Sanlong Zhao ◽  
Songming Huang ◽  
...  
Keyword(s):  
Case Report ◽  
Next Generation Sequencing ◽  
Chinese Child ◽  
Next Generation ◽  
Renal Abnormality ◽  
Generation Sequencing
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