Entire DAX1 Gene Deletion in an Indian Boy with Adrenal Hypoplasia Congenita

被引：0
作者：
Vaman V. Khadilkar
Hari R. Mangtani
Rahul R. Jahagirdar
Kavita A. Khatod
Nikhil D. Phadke
Pillay S. Deepa
Anuradha V. Khadilkar
机构：
[1] Old Building Basement,Department of Pediatric Endocrinology, Growth and Pediatric Endocrine unit, Hirabai Cowasji Jehangir Medical Research Institute
[2] Jehangir Hospital,Department of Pediatric Endocrinology
[3] Bharati Vidyapeeth Medical College,Department of Pediatrics
[4] BVDU Medical College,Causeway Healthcare Private Limited
[5] Phadke Hospital,undefined
来源：
The Indian Journal of Pediatrics | 2013年 / 80卷
关键词：
Adrenal failure; AHC; gene; Molecular analysis; India;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
引用
收藏
页码：631 / 635
页数：4
相关论文
共 50 条
  • [41] Case Report: A Novel Truncating Variant of NR0B1 Presented With X-Linked Late-Onset Adrenal Hypoplasia Congenita With Hypogonadotropic Hypogonadism
    Zhu, Feng
    Zhou, Min
    Deng, Xiuling
    Li, Yujuan
    Xiong, Jing
    FRONTIERS IN ENDOCRINOLOGY, 2022, 13
  • [42] Central precocious puberty in a boy with 22q13 deletion syndrome and NOTCH-1 gene duplication
    Giannakopoulos, Aris
    Fryssira, Helen
    Tzetis, Maria
    Xaidara, Athina
    Kanaka-Gantenbein, Christina
    JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2016, 29 (11) : 1307 - 1311
  • [43] A novel mutation in the NR0B1 gene in a family with monozygotic twin sisters and congenital adrenal hypoplasia affected children
    Minari, Roberta
    Vottero, Alessandra
    Tassi, Francesco
    Viani, Isabella
    Neri, Tauro Maria
    Street, Maria Elisabeth
    Ghizzoni, Lucia
    Bernasconi, Sergio
    Martorana, Davide
    HORMONES-INTERNATIONAL JOURNAL OF ENDOCRINOLOGY AND METABOLISM, 2015, 14 (01): : 160 - 166
  • [44] Novel mutation in the nuclear receptor subfamily 0, group B, member 1 (NR0B1) gene associated with intrafamilial heterogeneity in three boys with X-linked adrenal hypoplasia congenita and hypo-gonadotropic hypogonadism from India
    Mohan, Sony
    Danda, Sumita
    Mathai, Sarah
    Simon, Anna
    NATIONAL MEDICAL JOURNAL OF INDIA, 2019, 32 (03) : 141 - 143
  • [45] A novel mutation in the NR0B1 gene in a family with monozygotic twin sisters and congenital adrenal hypoplasia affected children
    Minari R.
    Vottero A.
    Tassi F.
    Viani I.
    Neri T.M.
    Street M.E.
    Ghizzoni L.
    Bernasconi S.
    Martorana D.
    Hormones, 2015, 14 (1) : 413 - 419
  • [46] A novel 13-bp deletion in Exon 1 of CYP21 gene causing severe congenital adrenal hyperplasia
    Kharrat, M
    Tardy, V
    M'Rad, R
    Maazoul, F
    Morel, Y
    Chaabouni, H
    DIAGNOSTIC MOLECULAR PATHOLOGY, 2005, 14 (04) : 250 - 252
  • [47] A novel 1p31.3p32.2 deletion involving the NFIA gene detected by array CGH in a patient with macrocephaly and hypoplasia of the corpus callosum
    Udo Koehler
    Elke Holinski-Feder
    Birgit Ertl-Wagner
    Juergen Kunz
    Arpad von Moers
    Hubertus von Voss
    Chayim Schell-Apacik
    European Journal of Pediatrics, 2010, 169 : 463 - 468
  • [48] Distal arthrogryposis type 5D in a South Indian family caused by novel deletion in ECEL1 gene
    Gowda, Mamatha
    Mohan, Shruthi
    Ramesh, Devika
    Chinta, Navya
    CLINICAL DYSMORPHOLOGY, 2021, 30 (02) : 100 - 103
  • [49] X-linked congenital adrenal hypoplasia: Report of long clinical follow-up and description of a new complex variant in the NR0B1 gene
    Esquiaveto-Aun, Adriana Mangue
    de Mello, Maricilda Palandi
    Guaragna, Mara Sanches
    Lopes, Vera Lucia Gil da Silva
    Francese-Santos, Ana Paula
    Cruz Piveta, Cristiane dos Santos
    Mazolla, Tais Nitsh
    de Lemos-Marini, Sofia Helena Valente
    Guerra-Junior, Gil
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2024, 194 (06)
  • [50] De Novo Interstitial Deletion of 1q32.2-q32.3 Including the Entire IRF6 Gene in a Patient with Oral Cleft and Other Dysmorphic Features
    Salahshourifar, I.
    Halim, A. S.
    Sulaiman, W. A. W.
    Ariffin, R.
    Nor, N. Naili Muhamad
    Zilfalil, B. A.
    CYTOGENETIC AND GENOME RESEARCH, 2011, 134 (02) : 83 - 87
12345