Novel Renal Phenotype of a Rare Genetic Syndrome: Pericentrin (PCNT) Gene Related Microcephalic Osteodysplastic Primordial Dwarfism Type II

被引:0
|
作者
Llanos, Maria [1 ]
Wang, Xiangling [1 ]
Herlitz, Leal C. [1 ]
Shad, Fariha [1 ]
Hijazi, Fadi A. [1 ]
Roberts, Mary-Beth [1 ]
机构
[1] Cleveland Clin, Cleveland, OH 44106 USA
来源
关键词
D O I
暂无
中图分类号
R5 [内科学]; R69 [泌尿科学(泌尿生殖系疾病)];
学科分类号
1002 ; 100201 ;
摘要
FR-PO306
引用
收藏
页码:408 / 408
页数:1
相关论文
共 50 条
  • [31] Erratum to: Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review
    Michael B. Bober
    Andrew P. Jackson
    Current Osteoporosis Reports, 2017, 15 : 399 - 399
  • [32] Striking Hematological Abnormalities in Patients With Microcephalic Osteodysplastic Primordial Dwarfism Type II (MOPD II): A Potential Role of Pericentrin in Hematopoiesis
    Unal, Sule
    Alanay, Yasemin
    Cetin, Mualla
    Boduroglu, Koray
    Utine, Eda
    Cormier-Daire, Valerie
    Huber, Celine
    Ozsurekci, Yasemin
    Kilic, Esra
    Kiper, Ozlem Pelin Simsek
    Gumruk, Fatma
    PEDIATRIC BLOOD & CANCER, 2014, 61 (02) : 302 - 305
  • [33] Cutaneous features associated with microcephalic osteodysplastic primordial dwarfism type II
    Webber, Naomi
    O'Toole, Edel A.
    Paige, David G.
    Rosser, Elisabeth
    PEDIATRIC DERMATOLOGY, 2008, 25 (03) : 401 - 402
  • [34] Renal Dysplasia and Precocious Diabetes Onset in Microcephalic Osteodysplastic Primordial Dwarfism Type II Syndrome: A Case Report
    Segovia-Orti, Raquel
    Aliaga Cano, Natalia Espinosa de los Monteros
    Lumbreras, Javier
    de Sotto-Esteban, Diego
    Dolores Rodrigo, Maria
    JOURNAL OF PEDIATRIC GENETICS, 2022, 11 (02) : 158 - 161
  • [35] Case Report: short stature, kidney anomalies, and cerebral aneurysms in a novel homozygous mutation in the PCNT gene associated with microcephalic osteodysplastic primordial dwarfism type II
    Petraroli, Maddalena
    Percesepe, Antonio
    Piane, Maria
    Ormitti, Francesca
    Castellone, Eleonora
    Gnocchi, Margherita
    Messina, Giulia
    Bernardi, Luca
    Patianna, Viviana Dora
    Esposito, Susanna Maria Roberta
    Street, Maria Elisabeth
    FRONTIERS IN ENDOCRINOLOGY, 2023, 14
  • [36] Microcephalic osteodysplastic primordial dwarfism type II: Additional nine patients with implications on phenotype and genotype correlation
    Abdel-Salam, Ghada M. H.
    Sayed, Inas S. M.
    Afifi, Hanan H.
    Abdel-Ghafar, Sherif F.
    Abouzaid, Maha R.
    Ismail, Samira I.
    Aglan, Mona S.
    Issa, Mahmoud Y.
    EL-Bassyouni, Hala T.
    El-Kamah, Ghada
    Effat, Laila K.
    Eid, Maha
    Zaki, Maha S.
    Temtamy, Samia A.
    Abdel-Hamid, Mohamed S.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2020, 182 (06) : 1407 - 1420
  • [37] Microcephalic osteodysplastic primordial dwarfism type II: Report of three cases and review
    Majewski, F
    Goecke, TO
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1998, 80 (01): : 25 - 31
  • [38] Microcephalic osteodysplastic primordial dwarfism type II is associated with global vascular disease
    Angela L. Duker
    Dagmar Kinderman
    Christy Jordan
    Tim Niiler
    Carissa M. Baker-Smith
    Louise Thompson
    David A. Parry
    Ricki S. Carroll
    Michael B. Bober
    Orphanet Journal of Rare Diseases, 16
  • [39] Expected weight gain for children with microcephalic osteodysplastic primordial dwarfism type II
    Duker, Angela L.
    Niiler, Timothy
    Bober, Michael B.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2017, 173 (11) : 3067 - 3069
  • [40] Multiple vascular malformations in a patient with microcephalic osteodysplastic primordial dwarfism type II
    Ruiz-Botero, F.
    Pachajoa, H.
    NEUROLOGIA, 2017, 32 (02): : 127 - 129