PMC Articles for MedGen (Select 462057) - PMC

Result Filters

Links from MedGen

Items: 4

Select item 69240841.

A novel 14q13.1–21.1 deletion identified by CNV-Seq in a patient with brain-lung-thyroid syndrome, tooth agenesis and immunodeficiency

Xuyun Hu, Jun Liu, Ruolan Guo, Jun Guo, Zhipeng Zhao, Wei Li, Baoping Xu, Chanjuan Hao

Mol Cytogenet. 2019; 12: 51. Published online 2019 Dec 19. doi: 10.1186/s13039-019-0463-z

PMCID:: PMC6924084

Abstract Article PDF–1.0M

Select item 73367362.

14q12q13.2 microdeletion syndrome: Clinical characterization of a new patient, review of the literature, and further evidence of a candidate region for CNS anomalies

Emanuela Ponzi, Mattia Gentile, Emanuele Agolini, Emilia Matera, Roberto Palumbi, Antonia Lucia Buonadonna, Antonia Peschechera, Alessandra Gabellone, Maria Fatima Antonucci, Lucia Margari

Mol Genet Genomic Med. 2020 Jul; 8(7): e1289. Published online 2020 May 16. doi: 10.1002/mgg3.1289

PMCID:: PMC7336736

Abstract Article PDF–545K

Select item 25979533.

Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children

Farah Zahir, Helen V Firth, Agnes Baross, Allen D Delaney, Patrice Eydoux, William T Gibson, Sylvie Langlois, Howard Martin, Lionel Willatt, Marco A Marra, Jan M Friedman

J Med Genet. 2007 Sep; 44(9): 556–561. Published online 2007 Jun 1. doi: 10.1136/jmg.2007.050823