Familial growth hormone deficiency associated with a PROKR2 gene variant

被引:0
|
作者
El Hattab, Ayman [1 ]
Ehtisham, Sarah [1 ]
机构
[1] Mediclin City Hosp, Dubai, U Arab Emirates
来源
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
P2-24
引用
收藏
页码:543 / 543
页数:1
相关论文
共 50 条
  • [21] FAMILIAL ISOLATED GROWTH-HORMONE DEFICIENCY
    VANGELDEREN, HH
    VANDERHOOG, CE
    CLINICAL GENETICS, 1981, 20 (02) : 173 - 175
  • [22] FAMILIAL ISOLATED GROWTH-HORMONE DEFICIENCY
    VICHAYANRAT, A
    SIRINAVIN, C
    VANNASAENG, S
    TANDHANAND, S
    JOURNAL OF THE MEDICAL ASSOCIATION OF THAILAND, 1981, 64 (10): : 519 - 526
  • [23] Growth hormone-releasing hormone receptor mutations in familial growth hormone deficiency
    Alba, M
    Salvatori, R
    ENDOCRINOLOGIST, 2003, 13 (05): : 422 - 427
  • [24] Modeling mutant/wild-type interactions to ascertain pathogenicity of PROKR2 missense variants in patients with isolated GnRH deficiency
    Cox, Kimberly H.
    Oliveira, Luciana M. B.
    Plummer, Lacey
    Corbin, Braden
    Gardella, Thomas
    Balasubramanian, Ravikumar
    Crowley, William F.
    HUMAN MOLECULAR GENETICS, 2018, 27 (02) : 338 - 350
  • [25] HETEROGENEOUS GROWTH-HORMONE (GH) GENE-MUTATIONS IN FAMILIAL GH DEFICIENCY
    COGAN, JD
    PHILLIPS, JA
    SAKATI, N
    FRISCH, H
    SCHOBER, E
    MILNER, RDG
    JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1993, 76 (05): : 1224 - 1228
  • [26] Germline Prokineticin Receptor 2 (PROKR2) Variants Associated With Central Hypogonadism Cause Differental Modulation of Distinct Intracellular Pathways
    Libri, Domenico Vladimiro
    Kleinau, Gunnar
    Vezzoli, Valeria
    Busnelli, Marta
    Guizzardi, Fabiana
    Sinisi, Antonio Agostino
    Pincelli, Angela Ida
    Mancini, Antonio
    Russo, Gianni
    Beck-Peccoz, Paolo
    Loche, Sandro
    Crivellaro, Claudio
    Maghnie, Mohamad
    Krausz, Csilla
    Persani, Luca
    Bonomi, Marco
    JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2014, 99 (03): : E458 - E463
  • [27] Two novel mutations in the promoter region of the growth hormone gene (GH1) in familial isolated growth hormone deficiency
    Giannakopoulou, Ioanna
    Gil, Andrea Paola Rojas
    Spiliotis, Bessie E.
    HORMONE RESEARCH, 2009, 72 : 91 - 92
  • [28] Growth Hormone Deficiency in 2 Siblings Associated with Combined GH1 Gene Polymorphisms
    Yamamoto, M.
    Iguchi, G.
    Fukuoka, H.
    Miyako, K.
    Takahashi, Y.
    EXPERIMENTAL AND CLINICAL ENDOCRINOLOGY & DIABETES, 2012, 120 (05) : 308 - 310
  • [29] A new missense mutation in the growth hormone-releasing hormone receptor gene in familial isolated GH deficiency
    Carakushansky, M
    Whatmore, AJ
    Clayton, PE
    Shalet, SM
    Gleeson, HK
    Price, DA
    Levine, MA
    Salvatori, R
    EUROPEAN JOURNAL OF ENDOCRINOLOGY, 2003, 148 (01) : 25 - 30
  • [30] Familial isolated growth hormone deficiency: Genetics and pathophysiology
    Hayashi, Y
    Kamijo, T
    Ogawa, M
    Seo, H
    ENDOCRINE JOURNAL, 2002, 49 (03) : 265 - 272