A Chinese patient with 11β-hydroxylase deficiency due to novel compound heterozygous mutation in CYP11B1 gene: a case report

BMC Endocrine Disorders ◽

10.1186/s12902-018-0295-6 ◽

2018 ◽

Vol 18 (1) ◽

Author(s):

Xianxian Yuan ◽

Lin Lu ◽

Shi Chen ◽

Jun Jiang ◽

Xiangqing Wang ◽

...

Keyword(s):

Case Report ◽

Chinese Patient ◽

Compound Heterozygous Mutation ◽

Heterozygous Mutation ◽

Compound Heterozygous ◽

Hydroxylase Deficiency

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Cerebrotendinous xanthomatosis-a case report with novel compound heterozygous mutation of CYP27A1 gene

Dermatologica Sinica ◽

10.1016/j.dsi.2018.01.003 ◽

2018 ◽

Vol 36 (4) ◽

pp. 200-202

Author(s):

Jeng Yuan ◽

Pi-Shan Sung ◽

Julia Yu-Yun Lee ◽

Sheau-Chiou Chao

Keyword(s):

Case Report ◽

Cerebrotendinous Xanthomatosis ◽

Compound Heterozygous Mutation ◽

Heterozygous Mutation ◽

Compound Heterozygous

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Identification of a novel compound heterozygous mutation of the CYP21A2 gene causing 21‑hydroxylase deficiency in a Chinese pedigree

Molecular Medicine Reports ◽

10.3892/mmr.2018.8391 ◽

2018 ◽

Author(s):

Jia Liu ◽

Xiujuan Zhang ◽

Haiqing Zhang ◽

Li Fang ◽

Jin Xu ◽

...

Keyword(s):

Compound Heterozygous Mutation ◽

Heterozygous Mutation ◽

Compound Heterozygous ◽

Hydroxylase Deficiency ◽

Cyp21a2 Gene ◽

21 Hydroxylase Deficiency

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A novel PNPLA6 compound heterozygous mutation identified in a Chinese patient with Boucher‑Neuhï¿½user syndrome

Molecular Medicine Reports ◽

10.3892/mmr.2018.8955 ◽

2018 ◽

Author(s):

Ruizhi Zheng ◽

Yaguang Zhao ◽

Jiayu Wu ◽

Yuanmei Wang ◽

Jian‑Ling Liu ◽

...

Keyword(s):

Chinese Patient ◽

Compound Heterozygous Mutation ◽

Heterozygous Mutation ◽

Compound Heterozygous

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A novel compound heterozygous mutation in VARS2 in a newborn with mitochondrial cardiomyopathy: a case report of a Chinese family

BMC Medical Genetics ◽

10.1186/s12881-018-0689-3 ◽

2018 ◽

Vol 19 (1) ◽

Author(s):

Keze Ma ◽

Mingyu Xie ◽

Xiaoguang He ◽

Guojun Liu ◽

Xiaomei Lu ◽

...

Keyword(s):

Case Report ◽

Compound Heterozygous Mutation ◽

Chinese Family ◽

Heterozygous Mutation ◽

Compound Heterozygous ◽

Mitochondrial Cardiomyopathy

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A novel compound heterozygous mutation in the arginase-1 gene identified in a Chinese patient with argininemia

Medicine ◽

10.1097/md.0000000000021634 ◽

2020 ◽

Vol 99 (32) ◽

pp. e21634

Author(s):

Dongqing Cui ◽

Yanxia Liu ◽

Liang Jin ◽

Liping Hu ◽

Lili Cao

Keyword(s):

Chinese Patient ◽

Compound Heterozygous Mutation ◽

Heterozygous Mutation ◽

Compound Heterozygous ◽

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A novel compound heterozygous mutation of K494_V495 deletion plus R496L and D487_F489 deletion in extreme C-terminus of cytochrome P450c17 causes 17α-hydroxylase deficiency

Molecular and Cellular Endocrinology ◽

10.1016/j.mce.2006.01.003 ◽

2006 ◽

Vol 249 (1-2) ◽

pp. 16-20 ◽

Author(s):

Long-Shyong Lee ◽

Wei-Jane Shu ◽

Chen-Ming Wu ◽

Chia-Hsing Hsieh ◽

Su-Mei Chen ◽

...

Keyword(s):

Compound Heterozygous Mutation ◽

Heterozygous Mutation ◽

Compound Heterozygous ◽

Hydroxylase Deficiency ◽

Cytochrome P450c17

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Next-generation sequencing identifies a novel compound heterozygous mutation in MYO7A in a Chinese patient with Usher Syndrome 1B

Clinica Chimica Acta ◽

10.1016/j.cca.2012.07.022 ◽

2012 ◽

Vol 413 (23-24) ◽

pp. 1866-1871 ◽

Author(s):

Xiaoming Wei ◽

Yan Sun ◽

Jiansheng Xie ◽

Quan Shi ◽

Ning Qu ◽

...

Keyword(s):

Next Generation Sequencing ◽

Usher Syndrome ◽

Chinese Patient ◽

Compound Heterozygous Mutation ◽

Heterozygous Mutation ◽

Compound Heterozygous ◽

Next Generation ◽

Generation Sequencing

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A novel compound heterozygous mutation of the L2HGDH gene in a Chinese boy with L-2-hydroxyglutaric aciduria: case report and literature review

Neurological Sciences ◽

10.1007/s10072-018-3483-2 ◽

2018 ◽

Vol 39 (10) ◽

pp. 1697-1703 ◽

Author(s):

Yuanfeng Zhang ◽

Chunmei Wang ◽

Kunfang Yang ◽

Simei Wang ◽

Guoli Tian ◽

...

Keyword(s):

Case Report ◽

Literature Review ◽

Compound Heterozygous Mutation ◽

Heterozygous Mutation ◽

Compound Heterozygous

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A novel compound heterozygous mutation in GALC associated with adult-onset Krabbe disease: case report and literature review

Neurogenetics ◽

10.1007/s10048-021-00682-1 ◽

2022 ◽

Author(s):

Salvatore Iacono ◽

Elda Del Giudice ◽

Alberta Leon ◽

Vincenzo La Bella ◽

Rossella Spataro

Keyword(s):

Case Report ◽

Literature Review ◽

Krabbe Disease ◽

Compound Heterozygous Mutation ◽

Heterozygous Mutation ◽

Compound Heterozygous ◽

Adult Onset ◽

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Late onset of familial nephrotic syndrome associated with a compound heterozygous mutation of the podocin-encoding gene (Case Report)

10.1111/j.1440-1797.2005.00481.x ◽

2005 ◽

Vol 10 (6) ◽

pp. 553-556 ◽

Author(s):

LEOPOLDO G ARDILES ◽

ALEJANDRA E CARRASCO ◽

JUAN D CARPIO ◽

SERGIO A MEZZANO

Keyword(s):

Nephrotic Syndrome ◽

Case Report ◽

Compound Heterozygous Mutation ◽

Heterozygous Mutation ◽

Compound Heterozygous ◽

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