Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Christian Zix"'
Autor:
Aurélie Becker, Charlotte Felici, Laëtitia Lambert, Anne de Saint Martin, Marie‐Thérèse Abi‐Warde, Elise Schaefer, Christian Zix, Mina Zamani, Saeid Sadeghian, Jawaher Zeighami, Tahereh Seifi, Reza Azizimalamiri, Gholamreza Shariati, Hamid Galehdari, Mareike Selig, Can Ding, Sarah Duerinckx, Isabelle Pirson, Marc Abramowicz, Guillemette Clément, Bruno Leheup, Philippe Jonveaux, Geneviève Lefort, Myriam Bronner, Mathilde Renaud, Céline Bonnet
Publikováno v:
Clinical Genetics. 103:346-351
Bi-allelic variants affecting one of the four genes encoding the AP4 subunits are responsible for the "AP4 deficiency syndrome." Core features include hypotonia that progresses to hypertonia and spastic paraplegia, intellectual disability, postnatal
Autor:
Florence Rousselet, Karène Brochet, Christophe Philippe, Christian Zix, Marie-José Grégoire, Céline Bonnet, Mireille Duc, Philippe Jonveaux
Publikováno v:
American journal of medical genetics. Part A. 140(3)
We report on a 6-year-old girl with developmental delay, tall stature, and obesity. G-banded chromosome analysis revealed mosaicism for one to three small de novo rings in 82% of peripheral lymphocytes. Fluorescence in situ hybridization (FISH) studi