Williams-Beuren region triplication syndrome in a 4year-old girl from Ukraine

被引：0
|
作者：
Kitsera, Nataliya [1 ,2 ]
Bondarenko, Maya [2 ]
Kozovyi, Ruslan [2 ]
Bahrynovskyi, Roman [2 ]
机构：
[1] Inst Hereditary Pathol NAMS Ukraine, Epidemiol, Lvov, Ukraine
[2] Ivano Frankivsk Natl Med Univ, Ivano Frankivsk, Ukraine
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2023年 / 31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：
EP09.003
引用
收藏
页码：168 / 169
页数：2
相关论文
共 50 条
  • [21] Transitional implants in a patient with Williams-Beuren syndrome: a four-year follow-up
    Mass, Eliyahu
    Oelgiesser, Dan
    Tal, Haim
    SPECIAL CARE IN DENTISTRY, 2007, 27 (03) : 112 - 116
  • [22] Constitutional and somatic deletions of the Williams-Beuren syndrome critical region in Non-Hodgkin Lymphoma
    Guenat, David
    Quentin, Samuel
    Rizzari, Carmelo
    Lundin, Catarina
    Coliva, Tiziana
    Edery, Patrick
    Fryssira, Helen
    Bermont, Laurent
    Ferrand, Christophe
    Soulier, Jean
    Borg, Christophe
    Rohrlich, Pierre-Simon
    JOURNAL OF HEMATOLOGY & ONCOLOGY, 2014, 7
  • [23] Williams-Beuren sndrome - Late diagnosis in a 24 year old man [Williams-Beuren-syndrom. Spatdiagnose bei einem 24jahrigen mann]
    Pankau R.
    Partsch C.-J.
    Gosch A.
    Winter M.
    Schneppenheim R.
    Monatsschrift Kinderheilkunde, 1998, 146 (2) : 93 - 96
  • [24] Williams-Beuren syndrome-stretching to learn big lessons from small patients
    Gimpel, Charlotte
    Schaefer, Franz
    NEPHROLOGY DIALYSIS TRANSPLANTATION, 2010, 25 (02) : 339 - 341
  • [25] Elastins From Patients with Williams-Beuren Syndrome and Healthy Individuals Differ on the Molecular Level
    Heinz, Andrea
    Huertas, Angela C. Mora
    Schraeder, Christoph U.
    Pankau, Rainer
    Gosch, Angela
    Schmelzer, Christian E. H.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2016, 170 (07) : 1832 - 1842
  • [26] Structure of the PHD zinc finger from human Williams-Beuren syndrome transcription factor
    Pascual, J
    Martinez-Yamout, M
    Dyson, HJ
    Wright, PE
    JOURNAL OF MOLECULAR BIOLOGY, 2000, 304 (05) : 723 - 729
  • [27] Association of GTF2i in the Williams-Beuren Syndrome Critical Region with Autism Spectrum Disorders
    Patrick Malenfant
    Xudong Liu
    Melissa L. Hudson
    Ying Qiao
    Monica Hrynchak
    Noémie Riendeau
    M. Jeannette Hildebrand
    Ira L. Cohen
    Albert E. Chudley
    Cynthia Forster-Gibson
    Elizabeth C. R. Mickelson
    Evica Rajcan-Separovic
    M. E. Suzanne Lewis
    Jeanette J. A. Holden
    Journal of Autism and Developmental Disorders, 2012, 42 : 1459 - 1469
  • [28] Association of GTF2i in the Williams-Beuren Syndrome Critical Region with Autism Spectrum Disorders
    Malenfant, Patrick
    Liu, Xudong
    Hudson, Melissa L.
    Qiao, Ying
    Hrynchak, Monica
    Riendeau, Noemie
    Hildebrand, M. Jeannette
    Cohen, Ira L.
    Chudley, Albert E.
    Forster-Gibson, Cynthia
    Mickelson, Elizabeth C. R.
    Rajcan-Separovic, Evica
    Lewis, M. E. Suzanne
    Holden, Jeanette J. A.
    JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS, 2012, 42 (07) : 1459 - 1469
  • [29] Williams-Beuren Syndrome Related Methyltransferase WBSCR27: From Structure to Possible Function
    Mariasina, Sofia S.
    Chang, Chi-Fon
    Navalayeu, Tsimafei L.
    Chugunova, Anastasia A.
    Efimov, Sergey V.
    Zgoda, Viktor G.
    Ivlev, Vasily A.
    Dontsova, Olga A.
    Sergiev, Petr V.
    Polshakov, Vladimir I.
    FRONTIERS IN MOLECULAR BIOSCIENCES, 2022, 9
  • [30] The common inversion of the Williams-Beuren Syndrome region at 7q11.23 does not cause clinical symptoms
    Tam, Elaine
    Young, Edwin J.
    Morris, Colleen A.
    Marshall, Christian R.
    Loo, Wayne
    Scherer, Stephen W.
    Mervis, Carolyn B.
    Osborne, Lucy R.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2008, 146A (14) : 1797 - 1806
12345