Genomic findings in patients with clinical suspicion of 22q11.2 deletion syndrome

Chromosome 22q11.2 deletion syndrome, one of the most common human genomic syndromes, has highly heterogeneous clinical presentation. Patients usually harbor a 1.5 to 3 Mb hemizygous deletion at chromosome 22q11.2, resulting in pathognomic TBX1, CRKL and/or MAPK1 haploinsufficiency. However, there a...

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Detaylı Bibliyografya
Yayımlandı:J Appl Genet
Asıl Yazarlar: Koczkowska, Magdalena, Wierzba, Jolanta, Śmigiel, Robert, Sąsiadek, Maria, Cabała, Magdalena, Ślężak, Ryszard, Iliszko, Mariola, Kardaś, Iwona, Limon, Janusz, Lipska-Ziętkiewicz, Beata S.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Springer Berlin Heidelberg 2016
Konular:
Human Genetics • Original Paper
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC5243916/
https://ncbi.nlm.nih.gov/pubmed/27629806
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s13353-016-0366-1
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