TY  - JOUR
AU  - Li, Dong
AU  - Wenger, Tara
AU  - Seiler, Christoph
AU  - March, Michael
AU  - Gutiérrez Uzquiza, Álvaro
AU  - Kao, Charlly
AU  - Bhoj, Elizabeth
AU  - Tian, Lifeng
AU  - Rosenbach, Misha
AU  - Liu, Yichuan
AU  - Robinson, Nora
AU  - Behr, Mechenzie
AU  - Chiavacci,Rosetta
AU  - Hou, Cuiping
AU  - Wang, Tiancheng
AU  - Bakay, Marina
AU  - Pellegrino da Silva, Renata
AU  - Perkins, Jonathan
AU  - Sleiman, Patrick
AU  - Levine, Michael
AU  - Hicks, Patricia
AU  - Itkin, Maxim
AU  - Dori, Yoav
AU  - Hakonarson, Hakon
PY  - 2018
DO  - 10.1093/hmg/ddy218
SN  - 0964-6906
SN  - 1460-2083
UR  - https://hdl.handle.net/20.500.14352/115929
T2  - Human Molecular Genetics
AB  - Central conducting lymphatic anomaly (CCLA) is one of the complex lymphatic anomalies characterized by dilated lymphatic channels, lymphatic channel dysmotility and distal obstruction affecting lymphatic drainage. We performed whole exome sequencing...
LA  - eng
M2  - 3233
PB  - Oxford University Press
TI  - Pathogenic variant in EPHB4 results in central conducting lymphatic anomaly
TY  - journal article
VL  - 27
ER  -