Molecular and Clinical data of two patients with Kabuki syndrome: reporting a novel pathogenic variant

被引：0
|
作者：
Amllal, Nada [1 ,2 ]
Zerkaoui, Maria [3 ]
Jdioui, Wafaa [3 ]
Sefiani, Abdelaziz [1 ,2 ]
Elalaoui, Siham Chafai [3 ]
Jaber, Lyahyai [1 ]
机构：
[1] Univ Mohammed 5, Res Team Genom & Mol Epidemiol Genet Dis, Fac Med & Pharm Rabat, Genopath Ctr, Rabat, Morocco
[2] NIH, Med Genet, Rabat, Morocco
[3] Ibn Sina CHU, Med Genet Unit, Rabat, Morocco
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2024年 / 32卷
关键词：
D O I：
暂无
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
EP10.047
引用
收藏
页码：1057 / 1057
页数：1
相关论文
共 50 条
  • [21] Two patients with Kabuki syndrome presenting with endocrine problems
    Bereket, A
    Turan, S
    Alper, G
    Comu, S
    Alpay, H
    Akalin, F
    JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2001, 14 (02): : 215 - 220
  • [22] A novel splicing variant of KDM6A in a family with Kabuki Syndrome 2
    Geckinli, Bilgen Bilge
    Ersoy, Aysenur
    Hanoglu, Onur
    Yuce, Vedat
    Soylemez, Mehmet Ali
    Arman, Ahmet
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 1043 - 1043
  • [23] A case of atypical Kabuki syndrome arising from a novel missense variant in HNRNPK
    Miyake, N.
    Inaba, M.
    Mizuno, S.
    Shiina, M.
    Imagawa, E.
    Miyatake, S.
    Nakashima, M.
    Mizuguchi, T.
    Takata, A.
    Ogata, K.
    Matsumoto, N.
    CLINICAL GENETICS, 2017, 92 (05) : 554 - 555
  • [24] Clinical and molecular analysis of Guangxi patients with Kabuki syndrome and KMT2D mutations
    Yi, Sheng
    Zhang, Xiaofei
    Yang, Qi
    Huang, Jingjing
    Zhou, Xunzhao
    Qian, Jiale
    Pan, Pingshan
    Yi, Shang
    Zhang, Shujie
    Zhang, Qiang
    Tang, Xianglian
    Huang, Limei
    Zhang, Qinle
    Qin, Zailong
    Luo, Jingsi
    HELIYON, 2023, 9 (10)
  • [25] Kabuki syndrome: Clinical data in 20 patients, literature review, and further guidelines for preventive management
    Schrander-Stumpel, CTRM
    Spruyt, L
    Curfs, LMG
    Defloor, T
    Schrander, JJP
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2005, 132A (03) : 234 - 243
  • [26] Rett syndrome: report of a new pathogenic variant and review of the literature regarding two clinical cases
    Jara-Ettinger, Ana C.
    Suarez-Hortiales, Sabino
    De La Torre-Garcia, Oliver
    BOLETIN MEDICO DEL HOSPITAL INFANTIL DE MEXICO, 2021, 78 (04): : 356 - 361
  • [27] Clinical and molecular characterization study of Chinese Kabuki syndrome in Hong Kong
    So, Po L.
    Luk, Ho M.
    Yu, Kris P. T.
    Cheng, Shirley S. W.
    Hau, Edgar W. L.
    Ho, Stephanie K. L.
    Lam, Stephen T. S.
    Lo, Ivan F. M.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2021, 185 (03) : 675 - 686
  • [28] Clinical heterogeneity of Kabuki Syndrome in a cohort of pediatric Romanian patients
    Manole, Tiberiu
    Radomir, Lidia
    Boboc, Madalina
    Procopiuc, Camelia
    Braha, Elena
    Gherlan, Iuliana
    HORMONE RESEARCH IN PAEDIATRICS, 2023, 96 : 528 - 528
  • [29] Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations
    Lehman, N.
    Mazery, A. C.
    Visier, A.
    Baumann, C.
    Lachesnais, D.
    Capri, Y.
    Toutain, A.
    Odent, S.
    Mikaty, M.
    Goizet, C.
    Taupiac, E.
    Jacquemont, M. L.
    Sanchez, E.
    Schaefer, E.
    Gatinois, V.
    Faivre, L.
    Minot, D.
    Kayirangwa, H.
    Sang, K. -H. L. Q.
    Boddaert, N.
    Bayard, S.
    Lacombe, D.
    Moutton, S.
    Touitou, I.
    Rio, M.
    Amiel, J.
    Lyonnet, S.
    Sanlaville, D.
    Picot, M. C.
    Genevieve, D.
    CLINICAL GENETICS, 2017, 92 (03) : 298 - 305
  • [30] Two siblings with uncombable hair syndrome: A new pathogenic variant
    Calvo-Asin, Carlos
    Palencia-Perez, Sara I.
    Quesada-Espinosa, Juan F.
    Puig-Buendia, Jose
    Cavestany-Rodriguez, Raquel
    Velasco-Tamariz, Virginia
    PEDIATRIC DERMATOLOGY, 2024, 41 (05) : 927 - 928
12345