Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring–Opitz syndromes期刊界 All Journals 搜尽天下杂志传播学术成果专业期刊搜索期刊信息化学术搜索

Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring–Opitz syndromes

Authors:	Roser Urreizti Neus Roca‐Ayats Judith Trepat Francisco Garcia‐Garcia Alejandro Aleman Daniela Orteschi Giuseppe Marangi Giovanni Neri John M. Opitz Joaquin Dopazo Bru Cormand Lluïsa Vilageliu Susana Balcells Daniel Grinberg

Affiliation:	1. Department of Genetics, Faculty of Biology, Universitat de Barcelona, CIBERER, IBUB, Barcelona, Spain;2. Department of Computational Genomics, Centro Investigación Prí, ncipe Felipe, Valencia, Spain;3. BIER, CIBERER, Valencia, Spain;4. Istituto Genetica Medica, Università Cattolica Sacro Cuore, Policlínico A Gemelli, Roma, Italy;5. Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah;6. Correspondence to:;7. Daniel Grinberg, Departament de Genetica, Facultat de Biologia, Universitat de Barcelona, Av. Diagonal 643, 08028 Barcelona, Spain.;8. E‐mail:

Abstract:

Keywords:	Opitz C trigonocephaly Bohring‐Opitz CD96 ASXL1 whole exome sequencing developmental disease molecular diagnosis rare disease