دورية أكاديمية
A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.
| العنوان: | A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis. |
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| المؤلفون: | Olson HE, Jean-Marçais N, Yang E, Heron D, Tatton-Brown K, van der Zwaag PA, Bijlsma EK, Krock BL, Backer E, Kamsteeg EJ, Sinnema M, Reijnders MRF, Bearden D, Begtrup A, Telegrafi A, Lunsing RJ, Burglen L, Lesca G, Cho MT, Smith LA, Sheidley BR, El Achkar CM, Pearl PL, Poduri A, Skraban CM, Tarpinian J, Nesbitt AI, Fransen van de Putte DE, Ruivenkamp CAL, Rump P, Chatron N, Sabatier I, De Bellescize J, Guibaud L, Sweetser DA, Waxler JL, Wierenga KJ, Donadieu J, Narayanan V, Ramsey KM, Nava C, Rivière JB, Vitobello A, Mau-Them FT, Philippe C, Bruel AL, Duffourd Y, Thomas L, Lelieveld SH, Schuurs-Hoeijmakers J, Brunner HG, Keren B, Thevenon J, Faivre L, Thomas G, Thauvin-Robinet C |
| مؤلفون مشاركون: | DDD Study, C4RCD Research Group |
| المصدر: | American journal of human genetics [Am J Hum Genet] 2018 Oct 04; Vol. 103 (4), pp. 631. |
| نوع المنشور: | Journal Article; Published Erratum |
| اللغة: | English |
| بيانات الدورية: | Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: PubMed not MEDLINE |
| أسماء مطبوعة: | Publication: 2008- : [Cambridge, MA] : Cell Press Original Publication: Baltimore, American Society of Human Genetics. |
| التعليقات: | Erratum for: Am J Hum Genet. 2018 May 3;102(5):995-1007. (PMID: 29656858) |
| معلومات مُعتمدة: | R01 DK112844 United States DK NIDDK NIH HHS; R01 DK114855 United States DK NIDDK NIH HHS |
| تواريخ الأحداث: | Date Created: 20181006 Latest Revision: 20200825 |
| رمز التحديث: | 20240628 |
| مُعرف محوري في PubMed: | PMC6174321 |
| DOI: | 10.1016/j.ajhg.2018.09.002 |
| PMID: | 30290155 |
| قاعدة البيانات: | MEDLINE |
| تدمد: | 1537-6605 |
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| DOI: | 10.1016/j.ajhg.2018.09.002 |