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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Detalles Bibliográficos
Autores principales: Koczkowska, Magdalena, Wierzba, Jolanta, Śmigiel, Robert, Sąsiadek, Maria, Cabała, Magdalena, Ślężak, Ryszard, Iliszko, Mariola, Kardaś, Iwona, Limon, Janusz, Lipska-Ziętkiewicz, Beata S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2016
Materias:
Human Genetics • Original Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5243916/
https://www.ncbi.nlm.nih.gov/pubmed/27629806
http://dx.doi.org/10.1007/s13353-016-0366-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5243916/
https://www.ncbi.nlm.nih.gov/pubmed/27629806
http://dx.doi.org/10.1007/s13353-016-0366-1

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