PMM2-CDG.
Lam C, Krasnewich DM.
2005 Aug 15 [updated 2021 May 20]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024.
Biallelic DNAJC3 variants in a neuroendocrine developmental disorder with insulin dysregulation.
Ocansey S, Pullen D, Atkinson P, Clarke A, Hadonou M, Crosby C, Short J, Lloyd IC, Smedley D, Assunta A, Shah P, McEntagart M; Genomics England Research Consortium.
Clin Dysmorphol. 2022 Jan 1;31(1):11-17. doi: 10.1097/MCD.0000000000000397.
Spinal Muscular Atrophy With Respiratory Distress Type 1-A Child With Atypical Presentation.
Chiu ATG, Chan SHS, Wu SP, Ting SH, Chung BHY, Chan AOK, Wong VCN.
Child Neurol Open. 2018 Apr 19;5:2329048X18769811. doi: 10.1177/2329048X18769811. eCollection 2018.
