Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Jennifer L Stinson"'
Publikováno v:
Journal of the National Comprehensive Cancer Network. 21:CGE23-071
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::365904e2e8049a0093c41a7a9ed5f29e
https://doi.org/10.6004/jnccn.2022.7182
https://doi.org/10.6004/jnccn.2022.7182
Autor:
Jennifer A. Brault, David D. Weaver, Jennifer L. Stinson, Bryan D. Hall, Boaz Karmazyn, Brett H. Graham, Paula Delk
Publikováno v:
American Journal of Medical Genetics Part A. 182:1562-1571
We report on a 26-year-old male with extreme short stature, microcephaly, macroglossia, other dysmorphic features, severe intellectual disability, and a bone dysplasia. The patient had an extensive genetic and biochemical evaluation that was all norm
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f94e2ef2db6336973ebe7fafeac56199
https://doi.org/10.1002/ajmg.a.61619
https://doi.org/10.1002/ajmg.a.61619