https://scholars.lib.ntu.edu.tw/handle/123456789/531320
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Chee S.-Y. | en_US |
dc.contributor.author | Guo J.-W. | en_US |
dc.contributor.author | Huang C.-J. | en_US |
dc.contributor.author | YIN-HSIU CHIEN | en_US |
dc.contributor.author | Lee Y.-C. | en_US |
dc.contributor.author | Feng W.-K. | en_US |
dc.date.accessioned | 2020-12-24T06:16:20Z | - |
dc.date.available | 2020-12-24T06:16:20Z | - |
dc.date.issued | 2019 | - |
dc.identifier.issn | 1424-8581 | - |
dc.identifier.uri | https://www.scopus.com/inward/record.uri?eid=2-s2.0-85065616232&doi=10.1159%2f000499956&partnerID=40&md5=7714cfb2ac347c88c9737ff2f1c880cf | - |
dc.identifier.uri | https://scholars.lib.ntu.edu.tw/handle/123456789/531320 | - |
dc.description.abstract | Miller-Dieker syndrome (MDS; OMIM 247200) is a rare contiguous gene deletion syndrome associated with lissencephaly and characteristic facial dysmorphism. T-cell lymphopenia is an immunodeficiency disorder which can be early detected by newborn blood screening, and all live vaccines should be avoided. We report a 2.32-Mb microdeletion at chromosome 17p13.3p13.2 and T-cell lymphopenia in a 6-month-old male infant with MDS. This is, to our knowledge, the first description of these 2 conditions co-occurring in the same patient. ? 2019 S. Karger AG, Basel. | - |
dc.publisher | S. Karger AG | - |
dc.relation.ispartof | Cytogenetic and Genome Research | - |
dc.subject | 17p deletion; Miller-Dieker syndrome; T-cell lymphopenia | - |
dc.subject.classification | [SDGs]SDG3 | - |
dc.subject.other | anticonvulsive agent; adolescent; agyria; Article; aspa gene; bhlha9 gene; case report; chromosome 17p; chromosome deletion; clinical article; cluh gene; corpus callosum; crk gene; cryptorchism; cytogenetics; dph1 gene; flow cytometry; gene; gene deletion; genetic association; hic1 gene; human; hydrocephalus; hypertelorism; intrauterine growth retardation; low birth weight; low set ear; lymphocytopenia; male; microcephaly; micrognathia; Miller Dieker syndrome; mir132 gene; mir212 gene; mir22 gene; mnt gene; muscle rigidity; myo1c gene; nuclear magnetic resonance imaging; opisthotonus; or1d2 gene; ovca2 gene; pafah1b1 gene; palpebral fissure; physiotherapy; pitpna gene; positive end expiratory pressure; priority journal; prpf8 gene; respiratory distress; rilp gene; rpa1 gene; rtn4rl1 gene; scarf1 gene; seizure; serpinf1 gene; sgsm2 gene; short nose; slc43a2 gene; smg6 gene; srr gene; T cell lymphopenia; trpv3 gene; tsr1 gene; tusc5 gene; wdr81 gene; ywhae gene; agyria; chromosome 17; comorbidity; fluorescence in situ hybridization; genetics; infant; lymphocytopenia; Chromosomes, Human, Pair 17; Classical Lissencephalies and Subcortical Band Heterotopias; Comorbidity; Humans; In Situ Hybridization, Fluorescence; Infant; Male; Sequence Deletion; T-Lymphocytopenia, Idiopathic CD4-Positive | - |
dc.title | Rare Concurrence of Two Congenital Disorders: Miller-Dieker Syndrome and T-Cell Lymphopenia | en_US |
dc.type | journal article | en |
dc.identifier.doi | 10.1159/000499956 | - |
dc.identifier.pmid | 31030199 | - |
dc.identifier.scopus | 2-s2.0-85065616232 | - |
dc.relation.pages | 227-230 | - |
dc.relation.journalvolume | 157 | - |
dc.relation.journalissue | 4 | - |
item.openairetype | journal article | - |
item.fulltext | no fulltext | - |
item.openairecristype | http://purl.org/coar/resource_type/c_6501 | - |
item.grantfulltext | none | - |
item.cerifentitytype | Publications | - |
crisitem.author.dept | Pediatrics | - |
crisitem.author.dept | Pediatrics-NTUH | - |
crisitem.author.dept | Medical Genetics-NTUH | - |
crisitem.author.orcid | 0000-0001-8802-5728 | - |
crisitem.author.parentorg | College of Medicine | - |
crisitem.author.parentorg | National Taiwan University Hospital | - |
crisitem.author.parentorg | National Taiwan University Hospital | - |
Appears in Collections: | 醫學系 |
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