Stuve-Wiedemann syndrome: a rare clinical entity

被引：0
|
作者：
Dogan, O. Akgun [1 ]
Demirkol, Y. Kendir [1 ]
Say, M. [2 ]
Akgun, T. Kizilboga [3 ,4 ]
Doganay, L. [4 ]
机构：
[1] Hlth Sci Univ, Umraniye Educ & Res Hosp, Dept Pediat Genet, Istanbul, Turkey
[2] Gen Era Diagnost, Bioinformat Team, Istanbul, Turkey
[3] Istanbul Tech Univ, Dept Mol Biol & Genet, Istanbul, Turkey
[4] Hlth Sci Univ, Umraniye Educ & Res Hosp, GLAB Genom Lab, Istanbul, Turkey
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2019年 / 27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：
P04.71C
引用
收藏
页码：1300 / 1301
页数：2
相关论文
共 50 条
  • [41] A homozygous deletion of exon 7 in LIFR gene in a neonatal case of Stuve-Wiedemann Syndrome
    Obon, M.
    Ramirez, J. M.
    Sanchez, M.
    Trujillo, A.
    Casellas, D.
    Valero, D.
    Felipe, V.
    Queralt, X.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2018, 26 : 839 - 839
  • [42] Abnormal oral-pharyngeal swallowing as cause of morbidity and early death in Stuve-Wiedemann syndrome
    Roman Corona-Rivera, J.
    Cormier-Daire, Valerie
    Dagoneau, Nathalie
    Coello-Ramirez, Pedro
    Lopez-Marure, Eloy
    Romo-Huerta, Carmen O.
    Silva-Baez, Hector
    Aguirre-Salas, Liuba M.
    Ines Estrada-Solorio, Maria
    EUROPEAN JOURNAL OF MEDICAL GENETICS, 2009, 52 (04) : 242 - 246
  • [43] Characterization of a long-term survivor with Stuve-Wiedemann syndrome and mosaicism of a supernumerary marker chromosome
    Chen, E
    Cotter, PD
    Cohen, RA
    Lachman, RS
    AMERICAN JOURNAL OF MEDICAL GENETICS, 2001, 101 (03): : 240 - 245
  • [44] Mitochondrial dysfunction in Stuve-Wiedemann syndrome in a patient carrying an ND1 gene mutation
    Morava, Eva
    Hamel, Ben
    Hol, Frans
    Rodenburg, Richard
    Smeitink, Jan
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2006, 140A (20) : 2248 - 2250
  • [45] Long-term follow-up in Stuve-Wiedemann syndrome: a case report with articular involvement
    Buonuomo, Paola Sabrina
    Macchiaiolo, Marina
    Cambiaso, Paola
    Rana, Ippolita
    Digilio, Maria Cristina
    Bartuli, Andrea
    CLINICAL DYSMORPHOLOGY, 2014, 23 (02) : 45 - 46
  • [46] Stuve Wiedemann Syndrome - Case report
    Adiga, Vaishali
    Kunte, Megha
    ANESTHESIA AND ANALGESIA, 2021, 133 (3S_SUPPL): : 1182 - 1182
  • [47] Paediatric survivors beyond infancy with Stuve-Wiedemann syndrome-A case series from the West Midlands, UK
    McDermott, Helen
    Simmonds, Jennifer
    Thyagarajan, Manigandan
    Islam, Lily
    Naik, Swati
    Titheradge, Hannah
    EUROPEAN JOURNAL OF MEDICAL GENETICS, 2023, 66 (08)
  • [48] Stuve-Wiedemann dysplasia in a 3 1/2-year-old boy
    Kozlowski, K
    Tenconi, R
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1996, 63 (01): : 17 - 19
  • [49] Single-Stage Bilateral Corneal Neurotization for Neurotrophic Keratopathy in Stuve-Wiedemann Syndrome: A Case Report and Literature Review
    Wiebe, Jordan E.
    Rowe, Lucas W.
    Boente, Charline S.
    Borschel, Gregory H.
    JOURNAL OF PEDIATRIC OPHTHALMOLOGY & STRABISMUS, 2024, 61 (05) : E54 - E58
  • [50] Long-term survival in Stuve-Wiedemann syndrome: A neuro-myo-skeletal disorder with manifestations of dysautonomia
    Di Rocco, M
    Stella, G
    Bruno, C
    Lamba, LD
    Bado, M
    Superti-Furga, A
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2003, 118A (04): : 362 - 368
12345