Titre : | DYNC1H1-related disorders: A description of four new unrelated patients and a comprehensive review of previously reported variants |
Revue : | American journal of medical genetics. Part A |
Auteurs : | Amabile S ; Jeffries L ; McGrath JM ; Ji W ; Spencer-Manzon M ; Zhang H ; Lakhani SA |
Type de document : | Article |
Editeur : | United States, 2020 |
Langues: | Anglais |
Mots-clés: | DYNC1H1;intellectual disability;malformations in cortical development;neuromuscular;overlap;spinal muscular atrophy; |
Pubmed / DOI : | Pubmed : 32656949 / DOI : 10.1002/ajmg.a.61729 |
N° Profil MNM : | 2020071 |
En ligne : | http://www.ncbi.nlm.nih.gov/pubmed/32656949 |