Literature DB >> 14510919

Maternal isodisomy causing homozygosity for a dominant activating mutation of the luteinizing hormone receptor gene in a boy with familial male-limited precocious puberty.

Ana Claudia Latronico, Ana Elisa C Billerbeck, Emilia Modolo Pinto, Catarina Brazil D'Alva, Ivo Jorge P Arnhold, Berenice B Mendonca.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2003        PMID： 14510919     DOI： 10.1046/j.1365-2265.2003.01810.x

Source DB:  PubMed          Journal:  Clin Endocrinol (Oxf)        ISSN： 0300-0664            Impact factor:   3.478


× No keyword cloud information.
  1 in total

1.  A Homozygous Deletion of Exon 5 of KYNU Resulting from a Maternal Chromosome 2 Isodisomy (UPD2) Causes Catel-Manzke-Syndrome/VCRL Syndrome.

Authors:  Isabel Schüle; Urs Berger; Uta Matysiak; Gunda Ruzaike; Brigitte Stiller; Martin Pohl; Ute Spiekerkoetter; Ekkehart Lausch; Sarah C Grünert; Miriam Schmidts
Journal:  Genes (Basel)       Date:  2021-06-07       Impact factor: 4.096
  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.