التفاصيل البيبلوغرافية
| العنوان: |
De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features. |
| المؤلفون: |
Mullegama SV, Kiernan KA, Torti E, Pavlovsky E, Tilton N, Sekula A, Gao H, Alaimo JT, Engleman K, Rush ET, Blocker K, Dipple KM, Fettig VM, Hare H, Glass I, Grange DK, Griffin M, Phornphutkul C, Massingham L, Mehta L, Miller DE, Thies J, Merritt JL 2nd, Muller E 2nd, Osmond M, Sawyer SL, Slaugh R, Hickey RE, Wolf B, Choudhary S, Simonović M, Zhang Y, Palculict TB, Telegrafi A, Carere DA, Wentzensen IM, Morrow MM, Monaghan KG, Juusola J, Yang J |
| مؤلفون مشاركون: |
Care4Rare Canada Consortium, Undiagnosed Diseases Network |
| المصدر: |
American journal of human genetics [Am J Hum Genet] 2024 Jun 06; Vol. 111 (6), pp. 1240. Date of Electronic Publication: 2024 May 14. |
| نوع المنشور: |
Published Erratum |
| اللغة: |
English |
| بيانات الدورية: |
Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: PubMed not MEDLINE; MEDLINE |
| أسماء مطبوعة: |
Publication: 2008- : [Cambridge, MA] : Cell Press
Original Publication: Baltimore, American Society of Human Genetics. |
| التعليقات: |
Erratum for: Am J Hum Genet. 2024 Apr 4;111(4):778-790. doi: 10.1016/j.ajhg.2024.02.016. (PMID: 38531365) |
| تواريخ الأحداث: |
Date Created: 20240515 Latest Revision: 20240617 |
| رمز التحديث: |
20240617 |
| مُعرف محوري في PubMed: |
PMC11179398 |
| DOI: |
10.1016/j.ajhg.2024.05.004 |
| PMID: |
38749428 |
| قاعدة البيانات: |
MEDLINE |
