A novel mutation and a known mutation in the CLCN7 gene associated with relatively stable infantile malignant osteopetrosis in a Chinese patient

Gene ◽  
2016 ◽  
Vol 576 (1) ◽  
pp. 176-181 ◽  
Author(s):  
Binghui Zeng ◽  
Ru Li ◽  
Yuelin Hu ◽  
Bin Hu ◽  
Qiang Zhao ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Chinese Patient ◽  
Malignant Osteopetrosis ◽  
Infantile Malignant Osteopetrosis

Identification of Novel Mutation in Autosomal Recessive Infantile Malignant Osteopetrosis

2013 ◽  
Vol 81 (9) ◽  
pp. 969-970 ◽  
Author(s):  
Sirisha Rani Siddaiahgari ◽  
Darshak Makadia ◽  
Nikit Shah ◽  
Radha Rama Devi ◽  
Lokesh Lingappa
Keyword(s):  
Autosomal Recessive ◽  
Novel Mutation ◽  
Malignant Osteopetrosis ◽  
Infantile Malignant Osteopetrosis

Novel mutation of TCIRG1 and clinical pictures of two infantile malignant osteopetrosis patients

2010 ◽  
Vol 29 (2) ◽  
pp. 251-256 ◽  
Author(s):  
Ping Yuan ◽  
Zhihui Yue ◽  
Liangzhong Sun ◽  
Weijun Huang ◽  
Bin Hu ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Malignant Osteopetrosis ◽  
Clinical Pictures ◽  
Infantile Malignant Osteopetrosis

scholarly journals Osteopetro-Rickets: A Rare Paradoxical Association in an Infant

2012 ◽  
Vol 32 (1) ◽  
pp. 88-89
Author(s):  
MB Patil
Keyword(s):  
Case Report ◽  
Key Words ◽  
Bone Disease ◽  
Clinical Signs ◽  
Severe Anaemia ◽  
Management Options ◽  
Positive Balance ◽  
Malignant Osteopetrosis ◽  
Infantile Malignant Osteopetrosis ◽  
Key Words Osteopetrosis

Infantile malignant osteopetrosis is a hereditary bone disease with intense positive balance of body calcium. Osteopetro-rickets is a very rare paradoxical association of infantile osteopetrosis and rickets. This is a case report of an infant with osteopetro- rickets. He presented with severe anaemia, splenomegaly, hepatomegaly and clinical signs of rickets. The clinical, biochemical and skeletal survey showed osteopetrosis and rickets. We also describe the pathophysiologic mechanism and various management options. Key words: Osteopetrosis; Osteopetro-rickets; Rickets DOI: http://dx.doi.org/10.3126/jnps.v32i1.5292 J. Nepal Paediatr. Soc. Vol.32(1) 2012 88-89

Identification of a novel mutation in a Chinese patient with mild Darier's disease

2010 ◽  
Vol 49 (11) ◽  
pp. 1286-1288 ◽  
Author(s):  
Cheng-Rang Li ◽  
Pang-Gen Cui ◽  
Hong Jia ◽  
Hong-Sheng Wang ◽  
Min Chen ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Chinese Patient ◽  
Darier’S Disease ◽  
Darier's Disease

A novel mutation (Q239R) identified in a Taiwan Chinese patient with type VI mucopolysaccharidosis (Maroteaux-Lamy syndrome)

2000 ◽  
Vol 15 (4) ◽  
pp. 389-390 ◽  
Author(s):  
Jer-Yuarn Wu ◽  
Chi-Fan Yang ◽  
Cheng-Chun Lee ◽  
Jan-Gowth Chang ◽  
Fuu-Jen Tsai
Keyword(s):  
Novel Mutation ◽  
Chinese Patient ◽  
Taiwan Chinese

scholarly journals A Novel Mutation of PRKAR1A Caused Carney Complex in a Chinese Patient

2017 ◽  
Vol 130 (24) ◽  
pp. 3009-3010
Author(s):  
Xiao-Ling Cai ◽  
Jing Wu ◽  
Ying-Ying Luo ◽  
Ling Chen ◽  
Xue-Yao Han ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Carney Complex ◽  
Chinese Patient

A novel mutation (insTCCG) in the TSC2 gene in a Chinese patient with Tuberous sclerosis complex

2008 ◽  
Vol 49 (1) ◽  
pp. 92-94 ◽  
Author(s):  
Cheng-Da Yuan ◽  
Xiao-Li Chang ◽  
Min Gao ◽  
Feng-Li Xiao ◽  
Yao-Qun Wu ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Novel Mutation ◽  
Chinese Patient ◽  
Tsc2 Gene
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