Unusual clinical presentation and new mutation in a case of triple A syndrome

被引:1
|
作者
Lopez Valverde, Maria Eugenia [1 ]
Rebollo Perez, Maria Isabel [1 ]
Martinez Fernandez, Eva Maria [2 ]
Murillo Espejo, Eva [2 ]
Carrasco Salas, Pilar [3 ]
机构
[1] Hosp Juan Ramon Jimenez, Serv Endocrinol & Nutr, Huelva, Spain
[2] Hosp Juan Ramon Jimenez, Serv Neurol, Huelva, Spain
[3] Hosp Juan Ramon Jimenez, Serv Genet, Huelva, Spain
来源
ENDOCRINOLOGIA DIABETES Y NUTRICION | 2022年 / 69卷 / 05期
关键词
D O I
10.1016/j.endien.2022.04.002
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:382 / 384
页数:3
相关论文
共 50 条
  • [21] Reviewing the Clinical Spectrum Related to KMT2B Gene Mutations: an Unusual Clinical Presentation and a Possible New Pathogenic Mutation: a Case Report
    Cristina del Toro-Pérez
    Jesús Olivares Romero
    SN Comprehensive Clinical Medicine, 4 (1)
  • [22] Unusual Presentation Of Pediatric Myelodysplastic Syndrome: A Case Report
    Tondon, R.
    Singh, P. A.
    Misra, V
    Singh, M.
    JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH, 2007, 1 (02) : 76 - 78
  • [23] A case of liddles syndrome; unusual presentation with hypertensive encephalopathy
    Kota, Sunil Kumar
    Kota, Siva Krishna
    Panda, Sandip
    Modi, Kirtikumar D.
    SAUDI JOURNAL OF KIDNEY DISEASES AND TRANSPLANTATION, 2014, 25 (04) : 869 - 871
  • [24] UNUSUAL PRESENTATION OF A CASE OF EHLERS-DANLOS SYNDROME
    GOSNEY, MBE
    BRITISH DENTAL JOURNAL, 1987, 163 (02) : 54 - 56
  • [25] UNUSUAL PRESENTATION OF CYCLIC VOMITING SYNDROME: A CASE REPORT
    Sahoo, Manas Ranjan
    Rao, Majeti Srinivasa
    Vasundhara, A.
    Sudarsini, P.
    Rao, K. Umamaheswra
    JOURNAL OF EVOLUTION OF MEDICAL AND DENTAL SCIENCES-JEMDS, 2013, 2 (48): : 9280 - 9282
  • [26] Unusual presentation of prune belly syndrome: A case report
    Demisse A.G.
    Berhanu A.
    Tadesse T.
    Journal of Medical Case Reports, 11 (1)
  • [27] An Unusual Case Presentation of the May-Thurner Syndrome
    O'Laughlin, Michael C.
    Levens, Benjamin J.
    Levens, David J.
    Ring, David H., Jr.
    PLASTIC AND RECONSTRUCTIVE SURGERY-GLOBAL OPEN, 2016, 4 (06)
  • [28] SOTOS SYNDROME - PRESENTATION OF A CLINICAL CASE
    SCAGLIONI, S
    BESANA, R
    ORTISI, MT
    CALCAGNI, L
    GIOVANNINI, M
    MINERVA PEDIATRICA, 1982, 34 (15-1) : 669 - 674
  • [29] Case 2: An unusual presentation of an unusual condition (Case Presentation)
    Judd, O.
    Medcalf, M.
    Malik, T.
    ACTA PAEDIATRICA, 2008, 97 (06) : 694 - +
  • [30] Myelodysplastic Syndrome and Autoimmunity: A Case Report of an Unusual Presentation of Myelodysplastic Syndrome
    Merrill, Andrea L.
    Smith, Hedy
    CASE REPORTS IN HEMATOLOGY, 2011, 2011