PMC Articles for MedGen (Select 1798910) - PMC

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Items: 3

Select item 49043651.

A novel description of a syndrome consisting of 7q21.3 deletion including DYNC1I1 with preserved DLX5/6 without ectrodactyly: a case report

Héctor M. Ramos-Zaldívar, Daniel G. Martínez-Irías, Nelson A. Espinoza-Moreno, José S. Napky-Rajo, Tulio A. Bueso-Aguilar, Karla G. Reyes-Perdomo, Jimena A. Montes-Gambarelli, Isis M. Euceda, Aldo F. Ponce-Barahona, Carlos A. Gámez-Fernández, Wilberg A. Moncada-Arita, Victoria A. Palomo-Bermúdez, Julia E. Jiménez-Faraj, Amanda G. Hernández-Padilla, Denys A. Olivera, Kevin J. Robertson, Luis A. Leiva-Sanchez, Edwin Francisco Herrera-Paz

J Med Case Rep. 2016; 10: 156. Published online 2016 Jun 13. doi: 10.1186/s13256-016-0921-8

PMCID:: PMC4904365

Abstract Article PDF–590K

Select item 42379472.

Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families

Naeimeh Tayebi, Aleksander Jamsheer, Ricarda Flöttmann, Anna Sowinska-Seidler, Sandra C Doelken, Barbara Oehl-Jaschkowitz, Wiebke Hülsemann, Rolf Habenicht, Eva Klopocki, Stefan Mundlos, Malte Spielmann

Orphanet J Rare Dis. 2014; 9: 108. Published online 2014 Jul 29. doi: 10.1186/s13023-014-0108-6