A rare homozygous IGFALS gene pathogenic variant: a case report

被引：0
|
作者：
Della Pia, Belen [1 ]
Colombres, Maria Jose [1 ]
Insua, Claudia [2 ]
Scaglia, Paula Alejandra [3 ,4 ]
Azcoiti, Maria Esnaola [3 ,4 ]
Brunetto, Oscar [1 ]
Hernandez, Claudia [1 ]
机构：
[1] Hosp Gen Ninos Pedro Elizalde, Serv Endocrinol, Buenos Aires, Argentina
[2] Hosp Gen Ninos Pedro Elizalde, Buenos Aires, Argentina
[3] Hosp Ninos Dr Ricardo Gutierrez, Div Endocrinol, Ctr Invest Endocrinol Dr Cesar Bergada CEDIE, CONICET FEI, Buenos Aires, Argentina
[4] Hosp Ninos Dr Ricardo Gutierrez, Unidad Traslac, Buenos Aires, Argentina
来源：
HORMONE RESEARCH IN PAEDIATRICS | 2023年 / 96卷 / SUPPL 2期
关键词：
D O I：
暂无
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
EP54
引用
收藏
页码：170 / 170
页数：1
相关论文
共 50 条
  • [1] Recessive thrombocytopenia likely due to a homozygous pathogenic variant in the FYB gene: case report
    Hamamy, Hanan
    Makrythanasis, Periklis
    Al-Allawi, Nasir
    Muhsin, Abdulrahman A.
    Antonarakis, Stylianos E.
    BMC MEDICAL GENETICS, 2014, 15
  • [2] Severe protein C deficiency in a newborn caused by a homozygous pathogenic variant in the PROC gene: a case report
    Song, Uisook
    Ryu, Young Hye
    Hong, Kiteak
    Shim, So-Yeon
    Park, Seongyeol
    Lee, Jeong Seok
    Ju, Young Seok
    Shin, Seung Han
    Lee, Soyoung
    BMC PEDIATRICS, 2021, 21 (01)
  • [3] Severe protein C deficiency in a newborn caused by a homozygous pathogenic variant in the PROC gene: a case report
    Uisook Song
    Young Hye Ryu
    Kiteak Hong
    So-Yeon Shim
    Seongyeol Park
    Jeong Seok Lee
    Young Seok Ju
    Seung Han Shin
    Soyoung Lee
    BMC Pediatrics, 21
  • [4] A case report of a girl with a homozygous likely pathogenic variant in the KIF7 gene - Acrocallosal or Joubert syndrome?
    Studer, L.
    Boltshauser, E.
    Meier-Abt, F.
    Willi, B.
    Weichselbaum, A.
    SWISS MEDICAL WEEKLY, 2024, 154 : 25S - 25S
  • [5] MethotrexateEncephalopathy in a patient homozygous for a rare variant of methionine synthase: case report
    Reactions Weekly, 2007, 1179 (1) : 23 - 23
  • [6] Hereditary Hypercalcemia Caused by a Homozygous Pathogenic Variant in the CYP24A1 Gene: A Case Report and Review of the Literature
    Cappellani, Daniele
    Brancatella, Alessandro
    Kaufmann, Martin
    Minucci, Angelo
    Vignali, Edda
    Canale, Domenico
    De Paolis, Elisa
    Capoluongo, Ettore
    Cetani, Filomena
    Jones, Glenville
    Marcocci, Claudio
    CASE REPORTS IN ENDOCRINOLOGY, 2019, 2019
  • [7] Case report: Triple A syndrome in a Polish siblings carrying a ultra-rare homozygous variant of the AAAS gene
    Juscinska, Ewa
    Pastorczak, Agata
    Gadzalska, Karolina
    Jakiel, Paulina
    Gorzadek, Monika
    Ploszaj, Tomasz
    Skoczylas, Sebastian
    Borowiec, Maciej
    Zmyslowska, Agnieszka
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 977 - 977
  • [8] A rare homozygous p.Arg87Trp variant of the GBA gene in Gaucher disease: A case report
    Jilani, Houweyda
    Hsoumi, Faten
    Rejeb, Imen
    Elaribi, Yasmina
    Hizem, Syrine
    Sebai, Molka
    Rolfs, Arndt
    Benjemaa, Lamia
    CLINICAL CASE REPORTS, 2022, 10 (05):
  • [9] Case Report: A Novel Homozygous Variant of the SERPINF1 Gene in Rare Osteogenesis Imperfecta Type VI
    Zhalsanova, Irina Zh.
    Postrigan, Anna Evgenievna
    Valiakhmetov, Nail Raushanovich
    Kolesnikov, Nikita Aleksandrovich
    Zhigalina, Daria Ivanovna
    Zarubin, Aleksei Andreevich
    Petrova, Valeria Viktorovna
    Minaycheva, Larisa Ivanovna
    Seitova, Gulnara Narimanovna
    Skryabin, Nikolay Alekseevich
    Stepanov, Vadim Anatolevich
    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2023, 24 (07)
  • [10] Identification of SOFT syndrome caused by a pathogenic homozygous splicing variant of POC1A: a case report
    Guoqiang Li
    Guoying Chang
    Chen Wang
    Tingting Yu
    Niu Li
    Xiaodong Huang
    Xiumin Wang
    Jian Wang
    Jiwen Wang
    Ruen Yao
    BMC Medical Genomics, 14
12345