Novel homozygous mutation in CYP11A1 gene is associated with late-onset adrenal insufficiency and sexual ambiguity in 46, XY patient

被引：0
作者：
Tiulpakov, Anatoly [1 ]
Karmanov, Maksim [2 ]
Sverdlova, Polina [3 ]
Rubtsov, Petr [3 ]
机构：
[1] Endocrinol Res Ctr, Dept Endocrine Genet, Moscow, Russia
[2] Republican Pediat Hosp, Dept Endocrinol, Moscow, Russia
[3] Russian Acad Sci, Inst Mol Biol, Lab Hormones & Receptors, Moscow, Russia
来源：
HORMONE RESEARCH | 2008年 / 70卷
关键词：
D O I：
暂无
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
引用
收藏
页码：71 / 71
页数：1
相关论文
共 50 条
  • [31] Homozygous R788W point mutation in the XPF gene of a patient with Xeroderma pigmentosum and late-onset neurologic disease
    Sijbers, AM
    Vader, PCV
    Snoek, JW
    Raams, A
    Jaspers, NGJ
    Kleijer, WJ
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 1998, 110 (05) : 832 - 836
  • [32] A novel WT1 gene mutation in a patient with Wilms’ tumor and 46, XY gonadal dysgenesis
    Dong-Gi Lee
    Deok Hyun Han
    Kwan Hyun Park
    Minki Baek
    European Journal of Pediatrics, 2011, 170 : 1079 - 1082
  • [33] A novel mutation in the mitochondrial DNA tRNA Leu (UUR) gene associated with late-onset ocular myopathy
    Maeso, E.
    Rueda, A.
    Jimenez, S.
    del Hoyo, P.
    Martin, R.
    Cabello, A.
    Mendoza, L. M.
    Arenas, J.
    Campos, Y.
    NEUROMUSCULAR DISORDERS, 2007, 17 (05) : 415 - 418
  • [34] A novel dynamin-2 gene mutation associated with a late-onset centronuclear myopathy with necklace fibres
    Casar-Borota, Olivera
    Jacobsson, Johan
    Libelius, Rolf
    Oldfors, Carola Hedberg
    Malfatti, Edoardo
    Romero, Norma Beatriz
    Oldfors, Anders
    NEUROMUSCULAR DISORDERS, 2015, 25 (04) : 345 - 348
  • [35] Late-onset CMT2 associated with a novel missense mutation in the cytoplasmic domain of the MPZ gene
    Shimizu, Hirotaka
    Oka, Nobuyuki
    Kawarai, Toshitaka
    Taniguchi, Koichiro
    Saji, Naoki
    Tadano, Makoto
    Bernardi, Giorgio
    Orlacchio, Antonio
    Kita, Yasushi
    CLINICAL NEUROLOGY AND NEUROSURGERY, 2010, 112 (09) : 798 - 800
  • [36] A late-onset mitochondrial myopathy is associated with a novel mitochondrial DNA (mtDNA) point mutation in the tRNATrp gene
    Silvestri, G
    Rana, M
    DiMuzio, A
    Uncini, A
    Tonali, P
    Servidei, S
    NEUROMUSCULAR DISORDERS, 1998, 8 (05) : 291 - 295
  • [37] Late-onset bilateral lens dislocation and glaucoma associated with a novel mutation in FBN1
    Deng, Ting
    Dong, Bing
    Zhang, Xiaohui
    Dai, Hanjun
    Li, Yang
    MOLECULAR VISION, 2008, 14 (143-45): : 1229 - 1233
  • [38] Novel homozygous p.Y395X mutation in the CYP11B1 gene found in a Vietnamese patient with 11β-hydroxylase deficiency
    Huy Hoang Nguyen
    Thu Hien Nguyen
    Chi Dung Vu
    Kim Thoa Nguyen
    Bac Viet Le
    Thanh Liem Nguyen
    Van Hai Nong
    GENE, 2012, 509 (02) : 295 - 297
  • [39] Novel homozygous p.R454C mutation in the CYP11B1 gene leads to 11β-hydroxylase deficiency in a Chinese patient
    Wu, Chaoming
    Zhou, Qi
    Wan, Lian
    Ni, Li
    Zheng, Chao
    Qian, Yanying
    Jin, Jian
    FERTILITY AND STERILITY, 2011, 95 (03) : 1122.e3 - 1122.e6
  • [40] Heterozygous mutation in the cholesterol side chain cleavage enzyme (P450scc) gene in a patient with 46,XY sex reversal and adrenal insufficiency
    Tajima, T
    Fujieda, K
    Kouda, N
    Nakae, J
    Miller, WL
    JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2001, 86 (08) : 3820 - 3825
12345